Canonical Allele Identifier: CA1777532058

Gene: FGFR1

Linked Data

• dbSNP Id: rs1814521266
• gnomAD v4: 8-38411898-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38411898G>A , CM000670.2:g.38411898G>A	GRCh38
NC_000008.10:g.38269416G>A , CM000670.1:g.38269416G>A	GRCh37
NC_000008.9:g.38388573G>A	NCBI36
NG_007729.1:g.61937C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703405.1:c.*1730C>T	ENSP00000515291.1:n.*1730C>T
ENST00000341462.9:c.*491C>T	ENSP00000340636.7:n.*491C>T
ENST00000425967.8:c.*491C>T	ENSP00000393312.4:n.*491C>T
ENST00000683765.1:c.*491C>T	ENSP00000507039.1:n.*491C>T
ENST00000447712.7:c.*1730C>T MANE Select	ENSP00000400162.2:n.*1730C>T
ENST00000649678.1:c.*1730C>T	ENSP00000497266.1:n.*1730C>T
ENST00000674189.1:c.*2636C>T	ENSP00000501345.1:n.*2636C>T
ENST00000674380.1:c.*4166C>T	ENSP00000501514.1:n.*4166C>T
ENST00000341462.8:c.*3249C>T	ENSP00000340636.6:n.*3249C>T
ENST00000397091.9:c.*1730C>T	ENSP00000380280.5:n.*1730C>T
ENST00000425967.7:c.*1730C>T	ENSP00000393312.3:n.*1730C>T
ENST00000447712.6:c.*1730C>T	ENSP00000400162.2:n.*1730C>T
ENST00000532791.5:c.*1730C>T	ENSP00000432972.1:n.*1730C>T
ENST00000619564.3:c.*3094C>T	ENSP00000484553.1:n.*3094C>T
NM_001174063.1:c.*1730C>T	NP_001167534.1:n.*1730C>T
NM_001174064.1:c.*1730C>T	NP_001167535.1:n.*1730C>T
NM_001174065.1:c.*1730C>T	NP_001167536.1:n.*1730C>T
NM_001174066.1:c.*1730C>T	NP_001167537.1:n.*1730C>T
NM_001174067.1:c.*1730C>T	NP_001167538.1:n.*1730C>T
NM_015850.3:c.*1730C>T	NP_056934.2:n.*1730C>T
NM_023105.2:c.*1730C>T	NP_075593.1:n.*1730C>T
NM_023106.2:c.*1730C>T	NP_075594.1:n.*1730C>T
NM_023110.2:c.*1730C>T	NP_075598.2:n.*1730C>T
XM_006716303.2:c.*491C>T	XP_006716366.1:n.*491C>T
XM_006716304.1:c.*491C>T	XP_006716367.1:n.*491C>T
XM_006716305.2:c.*491C>T	XP_006716368.1:n.*491C>T
XM_006716306.2:c.*491C>T	XP_006716369.1:n.*491C>T
XM_006716307.1:c.*491C>T	XP_006716370.1:n.*491C>T
XM_006716309.2:c.*491C>T	XP_006716372.1:n.*491C>T
XM_006716310.2:c.*491C>T	XP_006716373.1:n.*491C>T
XM_006716311.1:c.*491C>T	XP_006716374.1:n.*491C>T
XM_006716312.1:c.*491C>T	XP_006716375.1:n.*491C>T
XM_006716313.2:c.*491C>T	XP_006716376.1:n.*491C>T
XM_006716314.1:c.*491C>T	XP_006716377.1:n.*491C>T
XM_011544443.1:c.*491C>T	XP_011542745.1:n.*491C>T
XM_011544444.1:c.*491C>T	XP_011542746.1:n.*491C>T
XM_011544445.1:c.*491C>T	XP_011542747.1:n.*491C>T
XM_011544448.1:c.*491C>T	XP_011542750.1:n.*491C>T
XM_011544449.1:c.*491C>T	XP_011542751.1:n.*491C>T
XM_011544451.1:c.*491C>T	XP_011542753.1:n.*491C>T
NM_001354367.1:c.*491C>T	NP_001341296.1:n.*491C>T
NM_001354368.1:c.*1730C>T	NP_001341297.1:n.*1730C>T
NM_001354369.1:c.*491C>T	NP_001341298.1:n.*491C>T
NM_001354370.1:c.*491C>T	NP_001341299.1:n.*491C>T
XM_006716303.3:c.*491C>T	XP_006716366.1:n.*491C>T
XM_006716310.3:c.*491C>T	XP_006716373.1:n.*491C>T
XM_006716312.2:c.*491C>T	XP_006716375.1:n.*491C>T
XM_006716314.2:c.*491C>T	XP_006716377.1:n.*491C>T
XM_011544443.2:c.*491C>T	XP_011542745.1:n.*491C>T
XM_011544445.2:c.*491C>T	XP_011542747.1:n.*491C>T
XM_011544446.2:c.*1730C>T	XP_011542748.1:n.*1730C>T
XM_011544447.2:c.*1730C>T	XP_011542749.1:n.*1730C>T
XM_011544450.2:c.*1730C>T	XP_011542752.1:n.*1730C>T
XM_017013219.1:c.*491C>T	XP_016868708.1:n.*491C>T
XM_017013220.1:c.*1730C>T	XP_016868709.1:n.*1730C>T
XM_017013221.1:c.*491C>T	XP_016868710.1:n.*491C>T
XM_017013222.2:c.*491C>T	XP_016868711.1:n.*491C>T
XM_017013224.2:c.*1730C>T	XP_016868713.1:n.*1730C>T
XM_017013225.2:c.*1730C>T	XP_016868714.1:n.*1730C>T
XM_017013226.1:c.*1730C>T	XP_016868715.1:n.*1730C>T
XM_017013227.1:c.*1730C>T	XP_016868716.1:n.*1730C>T
XM_017013229.2:c.*491C>T	XP_016868718.1:n.*491C>T
XM_017013230.1:c.*1730C>T	XP_016868719.1:n.*1730C>T
XM_024447097.1:c.*491C>T	XP_024302865.1:n.*491C>T
XR_001745496.1:n.3263C>T
NM_001174063.2:c.*1730C>T	NP_001167534.1:n.*1730C>T
NM_001174064.2:c.*1730C>T	NP_001167535.1:n.*1730C>T
NM_001174065.2:c.*1730C>T	NP_001167536.1:n.*1730C>T
NM_001174066.2:c.*1730C>T	NP_001167537.1:n.*1730C>T
NM_001354368.2:c.*1730C>T	NP_001341297.1:n.*1730C>T
NM_015850.4:c.*1730C>T	NP_056934.2:n.*1730C>T
NM_023105.3:c.*1730C>T	NP_075593.1:n.*1730C>T
NM_023106.3:c.*1730C>T	NP_075594.1:n.*1730C>T
NM_023110.3:c.*1730C>T MANE Select	NP_075598.2:n.*1730C>T
NM_001174067.2:c.*1730C>T	NP_001167538.1:n.*1730C>T
NM_001354367.2:c.*491C>T	NP_001341296.1:n.*491C>T
NM_001354369.2:c.*491C>T	NP_001341298.1:n.*491C>T
NM_001354370.2:c.*491C>T	NP_001341299.1:n.*491C>T