Canonical Allele Identifier: CA370733169

Gene: FGFR1

Linked Data

• ClinVar Variation Id: 463529
• ClinVar RCV Id: RCV000552321
• dbSNP Id: rs1554552774
• MyVariant Identifiers: chr8:g.38275745C>T (hg19) ; chr8:g.38418227C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38418227C>T , CM000670.2:g.38418227C>T	GRCh38
NC_000008.10:g.38275745C>T , CM000670.1:g.38275745C>T	GRCh37
NC_000008.9:g.38394902C>T	NCBI36
NG_007729.1:g.55608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703405.1:c.1430+1G>A	ENSP00000515291.1:n.1430+1G>A
ENST00000341462.9:c.1418+1G>A	ENSP00000340636.7:n.1418+1G>A
ENST00000425967.8:c.1418+1G>A	ENSP00000393312.4:n.1418+1G>A
ENST00000524528.2:n.2323+1G>A
ENST00000683765.1:c.1610+1G>A	ENSP00000507039.1:n.1610+1G>A
ENST00000683815.1:c.1418+1G>A	ENSP00000507997.1:n.1418+1G>A
ENST00000683948.1:n.2118+1G>A
ENST00000684654.1:c.1151+1G>A	ENSP00000507205.1:n.1151+1G>A
ENST00000447712.7:c.1430+1G>A MANE Select	ENSP00000400162.2:n.1430+1G>A
ENST00000649678.1:c.1418+1G>A	ENSP00000497266.1:n.1418+1G>A
ENST00000674189.1:c.*1076+1G>A	ENSP00000501345.1:n.*1076+1G>A
ENST00000674217.1:n.1937+1G>A
ENST00000674380.1:c.*1397+1G>A	ENSP00000501514.1:n.*1397+1G>A
ENST00000674474.1:n.2924+1G>A
ENST00000326324.10:c.1157+1G>A	ENSP00000327229.6:n.1157+1G>A
ENST00000335922.9:c.1400+1G>A	ENSP00000337247.5:n.1400+1G>A
ENST00000341462.8:c.*480+1G>A	ENSP00000340636.6:n.*480+1G>A
ENST00000356207.9:c.1163+1G>A	ENSP00000348537.5:n.1163+1G>A
ENST00000397091.9:c.1424+1G>A	ENSP00000380280.5:n.1424+1G>A
ENST00000397103.5:c.1163+1G>A	ENSP00000380292.1:n.1163+1G>A
ENST00000397108.8:c.1424+1G>A	ENSP00000380297.4:n.1424+1G>A
ENST00000397113.6:c.1424+1G>A	ENSP00000380302.2:n.1424+1G>A
ENST00000425967.7:c.1523+1G>A	ENSP00000393312.3:n.1523+1G>A
ENST00000447712.6:c.1430+1G>A	ENSP00000400162.2:n.1430+1G>A
ENST00000466021.5:n.597+1G>A
ENST00000487647.5:c.1307+1G>A	ENSP00000435254.1:n.1307+1G>A
ENST00000524528.1:n.447+1G>A
ENST00000526570.5:n.3709+1G>A
ENST00000527114.5:n.952+1G>A
ENST00000527745.3:n.658+1G>A
ENST00000532791.5:c.1424+1G>A	ENSP00000432972.1:n.1424+1G>A
ENST00000619564.3:c.*325+1G>A	ENSP00000484553.1:n.*325+1G>A
NM_001174063.1:c.1424+1G>A	NP_001167534.1:n.1424+1G>A
NM_001174064.1:c.1400+1G>A	NP_001167535.1:n.1400+1G>A
NM_001174065.1:c.1424+1G>A	NP_001167536.1:n.1424+1G>A
NM_001174066.1:c.1163+1G>A	NP_001167537.1:n.1163+1G>A
NM_001174067.1:c.1523+1G>A	NP_001167538.1:n.1523+1G>A
NM_015850.3:c.1424+1G>A	NP_056934.2:n.1424+1G>A
NM_023105.2:c.1163+1G>A	NP_075593.1:n.1163+1G>A
NM_023106.2:c.1157+1G>A	NP_075594.1:n.1157+1G>A
NM_023110.2:c.1430+1G>A	NP_075598.2:n.1430+1G>A
XM_006716303.2:c.1430+1G>A	XP_006716366.1:n.1430+1G>A
XM_006716304.1:c.1430+1G>A	XP_006716367.1:n.1430+1G>A
XM_006716305.2:c.1430+1G>A	XP_006716368.1:n.1430+1G>A
XM_006716306.2:c.1424+1G>A	XP_006716369.1:n.1424+1G>A
XM_006716307.1:c.1424+1G>A	XP_006716370.1:n.1424+1G>A
XM_006716309.2:c.1406+1G>A	XP_006716372.1:n.1406+1G>A
XM_006716310.2:c.1163+1G>A	XP_006716373.1:n.1163+1G>A
XM_006716311.1:c.1163+1G>A	XP_006716374.1:n.1163+1G>A
XM_006716312.1:c.1163+1G>A	XP_006716375.1:n.1163+1G>A
XM_006716313.2:c.1157+1G>A	XP_006716376.1:n.1157+1G>A
XM_006716314.1:c.1157+1G>A	XP_006716377.1:n.1157+1G>A
XM_011544443.1:c.1529+1G>A	XP_011542745.1:n.1529+1G>A
XM_011544444.1:c.1523+1G>A	XP_011542746.1:n.1523+1G>A
XM_011544445.1:c.1523+1G>A	XP_011542747.1:n.1523+1G>A
XM_011544446.1:c.1529+1G>A	XP_011542748.1:n.1529+1G>A
XM_011544447.1:c.1523+1G>A	XP_011542749.1:n.1523+1G>A
XM_011544448.1:c.1262+1G>A	XP_011542750.1:n.1262+1G>A
XM_011544449.1:c.1256+1G>A	XP_011542751.1:n.1256+1G>A
XM_011544450.1:c.1256+1G>A	XP_011542752.1:n.1256+1G>A
XM_011544451.1:c.1139+1G>A	XP_011542753.1:n.1139+1G>A
NM_001354367.1:c.1424+1G>A	NP_001341296.1:n.1424+1G>A
NM_001354368.1:c.1151+1G>A	NP_001341297.1:n.1151+1G>A
NM_001354369.1:c.1418+1G>A	NP_001341298.1:n.1418+1G>A
NM_001354370.1:c.1157+1G>A	NP_001341299.1:n.1157+1G>A
XM_006716303.3:c.1430+1G>A	XP_006716366.1:n.1430+1G>A
XM_006716310.3:c.1163+1G>A	XP_006716373.1:n.1163+1G>A
XM_006716312.2:c.1163+1G>A	XP_006716375.1:n.1163+1G>A
XM_006716314.2:c.1157+1G>A	XP_006716377.1:n.1157+1G>A
XM_011544443.2:c.1529+1G>A	XP_011542745.1:n.1529+1G>A
XM_011544445.2:c.1523+1G>A	XP_011542747.1:n.1523+1G>A
XM_011544446.2:c.1529+1G>A	XP_011542748.1:n.1529+1G>A
XM_011544447.2:c.1523+1G>A	XP_011542749.1:n.1523+1G>A
XM_011544450.2:c.1256+1G>A	XP_011542752.1:n.1256+1G>A
XM_017013219.1:c.1517+1G>A	XP_016868708.1:n.1517+1G>A
XM_017013220.1:c.1517+1G>A	XP_016868709.1:n.1517+1G>A
XM_017013221.1:c.1430+1G>A	XP_016868710.1:n.1430+1G>A
XM_017013222.2:c.1424+1G>A	XP_016868711.1:n.1424+1G>A
XM_017013224.2:c.1418+1G>A	XP_016868713.1:n.1418+1G>A
XM_017013225.2:c.1418+1G>A	XP_016868714.1:n.1418+1G>A
XM_017013226.1:c.1256+1G>A	XP_016868715.1:n.1256+1G>A
XM_017013227.1:c.1250+1G>A	XP_016868716.1:n.1250+1G>A
XM_017013229.2:c.458+1G>A	XP_016868718.1:n.458+1G>A
XM_017013230.1:c.458+1G>A	XP_016868719.1:n.458+1G>A
XM_024447097.1:c.1406+1G>A	XP_024302865.1:n.1406+1G>A
XR_001745495.1:n.1678+1G>A
XR_001745496.1:n.1678+1G>A
NM_001174063.2:c.1424+1G>A	NP_001167534.1:n.1424+1G>A
NM_001174064.2:c.1400+1G>A	NP_001167535.1:n.1400+1G>A
NM_001174065.2:c.1424+1G>A	NP_001167536.1:n.1424+1G>A
NM_001174066.2:c.1163+1G>A	NP_001167537.1:n.1163+1G>A
NM_001354368.2:c.1151+1G>A	NP_001341297.1:n.1151+1G>A
NM_015850.4:c.1424+1G>A	NP_056934.2:n.1424+1G>A
NM_023105.3:c.1163+1G>A	NP_075593.1:n.1163+1G>A
NM_023106.3:c.1157+1G>A	NP_075594.1:n.1157+1G>A
NM_023110.3:c.1430+1G>A MANE Select	NP_075598.2:n.1430+1G>A
NM_001174067.2:c.1523+1G>A	NP_001167538.1:n.1523+1G>A
NM_001354367.2:c.1424+1G>A	NP_001341296.1:n.1424+1G>A
NM_001354369.2:c.1418+1G>A	NP_001341298.1:n.1418+1G>A
NM_001354370.2:c.1157+1G>A	NP_001341299.1:n.1157+1G>A