Canonical Allele Identifier: CA370736417

Gene: FGFR1

Linked Data

• ClinVar Variation Id: 502125
• ClinVar RCV Id: RCV000593963 ; RCV000644518 ; RCV002483651
• dbSNP Id: rs1554570813
• MyVariant Identifiers: chr8:g.38287344G>A (hg19) ; chr8:g.38429826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38429826G>A , CM000670.2:g.38429826G>A	GRCh38
NC_000008.10:g.38287344G>A , CM000670.1:g.38287344G>A	GRCh37
NC_000008.9:g.38406501G>A	NCBI36
NG_007729.1:g.44009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703405.1:c.214C>T	ENSP00000515291.1:p.Gln72Ter
ENST00000341462.9:c.214C>T	ENSP00000340636.7:p.Gln72Ter
ENST00000425967.8:c.214C>T	ENSP00000393312.4:p.Gln72Ter
ENST00000683276.1:n.923C>T
ENST00000683765.1:c.214C>T	ENSP00000507039.1:p.Gln72Ter
ENST00000683795.1:n.923C>T
ENST00000683815.1:c.214C>T	ENSP00000507997.1:p.Gln72Ter
ENST00000683948.1:n.801-1391C>T
ENST00000684654.1:c.92-1391C>T	ENSP00000507205.1:n.92-1391C>T
ENST00000447712.7:c.214C>T MANE Select	ENSP00000400162.2:p.Gln72Ter
ENST00000649678.1:c.214C>T	ENSP00000497266.1:p.Gln72Ter
ENST00000674189.1:c.*181C>T	ENSP00000501345.1:n.*181C>T
ENST00000674380.1:c.*181C>T	ENSP00000501514.1:n.*181C>T
ENST00000674474.1:n.474C>T
ENST00000326324.10:c.92-1391C>T	ENSP00000327229.6:n.92-1391C>T
ENST00000335922.9:c.190C>T	ENSP00000337247.5:p.Gln64Ter
ENST00000341462.8:c.214C>T	ENSP00000340636.6:p.Gln72Ter
ENST00000356207.9:c.92-1391C>T	ENSP00000348537.5:n.92-1391C>T
ENST00000397090.4:n.472C>T
ENST00000397091.9:c.214C>T	ENSP00000380280.5:p.Gln72Ter
ENST00000397103.5:c.92-1391C>T	ENSP00000380292.1:n.92-1391C>T
ENST00000397108.8:c.214C>T	ENSP00000380297.4:p.Gln72Ter
ENST00000397113.6:c.214C>T	ENSP00000380302.2:p.Gln72Ter
ENST00000413133.6:c.214C>T	ENSP00000400708.2:p.Gln72Ter
ENST00000425967.7:c.313C>T	ENSP00000393312.3:p.Gln105Ter
ENST00000434187.5:c.92-1391C>T	ENSP00000392645.1:n.92-1391C>T
ENST00000447712.6:c.214C>T	ENSP00000400162.2:p.Gln72Ter
ENST00000470826.5:n.508-1391C>T
ENST00000484370.5:c.214C>T	ENSP00000433163.1:p.Gln72Ter
ENST00000487647.5:c.92-436C>T	ENSP00000435254.1:n.92-436C>T
ENST00000496296.5:n.835-1391C>T
ENST00000525001.5:c.214C>T	ENSP00000434712.1:p.Gln72Ter
ENST00000526570.5:n.995C>T
ENST00000526742.5:c.92-1391C>T	ENSP00000433569.1:n.92-1391C>T
ENST00000527203.5:n.122-1391C>T
ENST00000529552.5:c.92-1391C>T	ENSP00000435283.1:n.92-1391C>T
ENST00000530568.5:c.92-1391C>T	ENSP00000434473.1:n.92-1391C>T
ENST00000530701.1:n.178-7885C>T
ENST00000532386.5:n.177C>T
ENST00000532791.5:c.214C>T	ENSP00000432972.1:p.Gln72Ter
ENST00000533668.5:c.-116-1391C>T	ENSP00000434869.1:n.-116-1391C>T
ENST00000619564.3:c.92-1391C>T	ENSP00000484553.1:n.92-1391C>T
NM_001174063.1:c.214C>T	NP_001167534.1:p.Gln72Ter
NM_001174064.1:c.190C>T	NP_001167535.1:p.Gln64Ter
NM_001174065.1:c.214C>T	NP_001167536.1:p.Gln72Ter
NM_001174066.1:c.92-1391C>T	NP_001167537.1:n.92-1391C>T
NM_001174067.1:c.313C>T	NP_001167538.1:p.Gln105Ter
NM_015850.3:c.214C>T	NP_056934.2:p.Gln72Ter
NM_023105.2:c.92-1391C>T	NP_075593.1:n.92-1391C>T
NM_023106.2:c.92-1391C>T	NP_075594.1:n.92-1391C>T
NM_023110.2:c.214C>T	NP_075598.2:p.Gln72Ter
XM_006716303.2:c.214C>T	XP_006716366.1:p.Gln72Ter
XM_006716304.1:c.214C>T	XP_006716367.1:p.Gln72Ter
XM_006716305.2:c.214C>T	XP_006716368.1:p.Gln72Ter
XM_006716306.2:c.214C>T	XP_006716369.1:p.Gln72Ter
XM_006716307.1:c.214C>T	XP_006716370.1:p.Gln72Ter
XM_006716309.2:c.190C>T	XP_006716372.1:p.Gln64Ter
XM_006716310.2:c.92-1391C>T	XP_006716373.1:n.92-1391C>T
XM_006716311.1:c.92-1391C>T	XP_006716374.1:n.92-1391C>T
XM_006716312.1:c.92-1391C>T	XP_006716375.1:n.92-1391C>T
XM_006716313.2:c.92-1391C>T	XP_006716376.1:n.92-1391C>T
XM_006716314.1:c.92-1391C>T	XP_006716377.1:n.92-1391C>T
XM_011544443.1:c.313C>T	XP_011542745.1:p.Gln105Ter
XM_011544444.1:c.313C>T	XP_011542746.1:p.Gln105Ter
XM_011544445.1:c.313C>T	XP_011542747.1:p.Gln105Ter
XM_011544446.1:c.313C>T	XP_011542748.1:p.Gln105Ter
XM_011544447.1:c.313C>T	XP_011542749.1:p.Gln105Ter
XM_011544448.1:c.191-1391C>T	XP_011542750.1:n.191-1391C>T
XM_011544449.1:c.191-1391C>T	XP_011542751.1:n.191-1391C>T
XM_011544450.1:c.191-1391C>T	XP_011542752.1:n.191-1391C>T
XM_011544451.1:c.68-1391C>T	XP_011542753.1:n.68-1391C>T
XM_011544452.1:c.313C>T	XP_011542754.1:p.Gln105Ter
NM_001354367.1:c.214C>T	NP_001341296.1:p.Gln72Ter
NM_001354368.1:c.92-1391C>T	NP_001341297.1:n.92-1391C>T
NM_001354369.1:c.214C>T	NP_001341298.1:p.Gln72Ter
NM_001354370.1:c.92-1391C>T	NP_001341299.1:n.92-1391C>T
XM_006716303.3:c.214C>T	XP_006716366.1:p.Gln72Ter
XM_006716310.3:c.92-1391C>T	XP_006716373.1:n.92-1391C>T
XM_006716312.2:c.92-1391C>T	XP_006716375.1:n.92-1391C>T
XM_006716314.2:c.92-1391C>T	XP_006716377.1:n.92-1391C>T
XM_011544443.2:c.313C>T	XP_011542745.1:p.Gln105Ter
XM_011544445.2:c.313C>T	XP_011542747.1:p.Gln105Ter
XM_011544446.2:c.313C>T	XP_011542748.1:p.Gln105Ter
XM_011544447.2:c.313C>T	XP_011542749.1:p.Gln105Ter
XM_011544450.2:c.191-1391C>T	XP_011542752.1:n.191-1391C>T
XM_011544452.2:c.313C>T	XP_011542754.1:p.Gln105Ter
XM_017013219.1:c.313C>T	XP_016868708.1:p.Gln105Ter
XM_017013220.1:c.313C>T	XP_016868709.1:p.Gln105Ter
XM_017013221.1:c.214C>T	XP_016868710.1:p.Gln72Ter
XM_017013222.2:c.214C>T	XP_016868711.1:p.Gln72Ter
XM_017013224.2:c.214C>T	XP_016868713.1:p.Gln72Ter
XM_017013225.2:c.214C>T	XP_016868714.1:p.Gln72Ter
XM_017013226.1:c.191-1391C>T	XP_016868715.1:n.191-1391C>T
XM_017013227.1:c.191-1391C>T	XP_016868716.1:n.191-1391C>T
XM_017013230.1:c.-1981C>T	XP_016868719.1:n.-1981C>T
XM_017013231.1:c.313C>T	XP_016868720.1:p.Gln105Ter
XM_024447097.1:c.190C>T	XP_024302865.1:p.Gln64Ter
XR_001745495.1:n.462C>T
XR_001745496.1:n.462C>T
NM_001174063.2:c.214C>T	NP_001167534.1:p.Gln72Ter
NM_001174064.2:c.190C>T	NP_001167535.1:p.Gln64Ter
NM_001174065.2:c.214C>T	NP_001167536.1:p.Gln72Ter
NM_001174066.2:c.92-1391C>T	NP_001167537.1:n.92-1391C>T
NM_001354368.2:c.92-1391C>T	NP_001341297.1:n.92-1391C>T
NM_015850.4:c.214C>T	NP_056934.2:p.Gln72Ter
NM_023105.3:c.92-1391C>T	NP_075593.1:n.92-1391C>T
NM_023106.3:c.92-1391C>T	NP_075594.1:n.92-1391C>T
NM_023110.3:c.214C>T MANE Select	NP_075598.2:p.Gln72Ter
NM_001174067.2:c.313C>T	NP_001167538.1:p.Gln105Ter
NM_001354367.2:c.214C>T	NP_001341296.1:p.Gln72Ter
NM_001354369.2:c.214C>T	NP_001341298.1:p.Gln72Ter
NM_001354370.2:c.92-1391C>T	NP_001341299.1:n.92-1391C>T