Canonical Allele Identifier: CA10630973

Gene: FGFR1

Linked Data

• ClinVar Variation Id: 362912
• ClinVar RCV Id: RCV000313786 ; RCV000345233 ; RCV000348755 ; RCV000403834
• dbSNP Id: rs17182079
• gnomAD v2: 8-38325534-C-T
• gnomAD v3: 8-38468016-C-T
• gnomAD v4: 8-38468016-C-T
• MyVariant Identifiers: chr8:g.38325534C>T (hg19) ; chr8:g.38468016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38468016C>T , CM000670.2:g.38468016C>T	GRCh38
NC_000008.10:g.38325534C>T , CM000670.1:g.38325534C>T	GRCh37
NC_000008.9:g.38444691C>T	NCBI36
NG_007729.1:g.5819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703405.1:c.-124G>A	ENSP00000515291.1:n.-124G>A
ENST00000341462.9:c.-124G>A	ENSP00000340636.7:n.-124G>A
ENST00000683276.1:n.586G>A
ENST00000683765.1:c.-124G>A	ENSP00000507039.1:n.-124G>A
ENST00000683795.1:n.586G>A
ENST00000683815.1:c.-124G>A	ENSP00000507997.1:n.-124G>A
ENST00000683948.1:n.586G>A
ENST00000684654.1:c.-124G>A	ENSP00000507205.1:n.-124G>A
ENST00000447712.7:c.-124G>A MANE Select	ENSP00000400162.2:n.-124G>A
ENST00000674189.1:c.-124G>A	ENSP00000501345.1:n.-124G>A
ENST00000674380.1:c.-124G>A	ENSP00000501514.1:n.-124G>A
ENST00000674474.1:n.137G>A
ENST00000326324.10:c.-124G>A	ENSP00000327229.6:n.-124G>A
ENST00000335922.9:c.-216G>A	ENSP00000337247.5:n.-216G>A
ENST00000341462.8:c.-124G>A	ENSP00000340636.6:n.-124G>A
ENST00000356207.9:c.-124G>A	ENSP00000348537.5:n.-124G>A
ENST00000397090.4:n.135G>A
ENST00000397091.9:c.-124G>A	ENSP00000380280.5:n.-124G>A
ENST00000447712.6:c.-124G>A	ENSP00000400162.2:n.-124G>A
ENST00000470826.5:n.293G>A
ENST00000496296.5:n.620G>A
ENST00000532791.5:c.-124G>A	ENSP00000432972.1:n.-124G>A
ENST00000619564.3:c.-124G>A	ENSP00000484553.1:n.-124G>A
NM_001174063.1:c.-124G>A	NP_001167534.1:n.-124G>A
NM_001174064.1:c.-216G>A	NP_001167535.1:n.-216G>A
NM_015850.3:c.-124G>A	NP_056934.2:n.-124G>A
NM_023105.2:c.-124G>A	NP_075593.1:n.-124G>A
NM_023106.2:c.-124G>A	NP_075594.1:n.-124G>A
NM_023110.2:c.-124G>A	NP_075598.2:n.-124G>A
XM_006716303.2:c.-124G>A	XP_006716366.1:n.-124G>A
XM_006716306.2:c.-124G>A	XP_006716369.1:n.-124G>A
XM_006716310.2:c.-124G>A	XP_006716373.1:n.-124G>A
XM_006716313.2:c.-124G>A	XP_006716376.1:n.-124G>A
NM_001354367.1:c.-124G>A	NP_001341296.1:n.-124G>A
NM_001354368.1:c.-124G>A	NP_001341297.1:n.-124G>A
NM_001354370.1:c.-124G>A	NP_001341299.1:n.-124G>A
XM_006716303.3:c.-124G>A	XP_006716366.1:n.-124G>A
XM_006716310.3:c.-124G>A	XP_006716373.1:n.-124G>A
XM_017013222.2:c.-124G>A	XP_016868711.1:n.-124G>A
XM_017013224.2:c.-124G>A	XP_016868713.1:n.-124G>A
NM_001174063.2:c.-124G>A	NP_001167534.1:n.-124G>A
NM_001174064.2:c.-216G>A	NP_001167535.1:n.-216G>A
NM_001354368.2:c.-124G>A	NP_001341297.1:n.-124G>A
NM_015850.4:c.-124G>A	NP_056934.2:n.-124G>A
NM_023105.3:c.-124G>A	NP_075593.1:n.-124G>A
NM_023106.3:c.-124G>A	NP_075594.1:n.-124G>A
NM_023110.3:c.-124G>A MANE Select	NP_075598.2:n.-124G>A
NM_001354367.2:c.-124G>A	NP_001341296.1:n.-124G>A
NM_001354370.2:c.-124G>A	NP_001341299.1:n.-124G>A