Canonical Allele Identifier: CA10627755

Gene: FGFR1

Linked Data

• ClinVar Variation Id: 362921
• ClinVar RCV Id: RCV000313718 ; RCV000312183 ; RCV000366748 ; RCV000405118 ; RCV003422358
• dbSNP Id: rs553799602
• gnomAD v2: 8-38326263-C-G
• gnomAD v3: 8-38468745-C-G
• gnomAD v4: 8-38468745-C-G
• MyVariant Identifiers: chr8:g.38326263C>G (hg19) ; chr8:g.38468745C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38468745C>G , CM000670.2:g.38468745C>G	GRCh38
NC_000008.10:g.38326263C>G , CM000670.1:g.38326263C>G	GRCh37
NC_000008.9:g.38445420C>G	NCBI36
NG_007729.1:g.5090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703405.1:c.-853G>C	ENSP00000515291.1:n.-853G>C
ENST00000341462.8:c.-853G>C	ENSP00000340636.6:n.-853G>C
ENST00000447712.6:c.-853G>C	ENSP00000400162.2:n.-853G>C
ENST00000619564.3:c.-853G>C	ENSP00000484553.1:n.-853G>C
NM_001174063.1:c.-853G>C	NP_001167534.1:n.-853G>C
NM_001174064.1:c.-945G>C	NP_001167535.1:n.-945G>C
NM_015850.3:c.-853G>C	NP_056934.2:n.-853G>C
NM_023105.2:c.-853G>C	NP_075593.1:n.-853G>C
NM_023106.2:c.-853G>C	NP_075594.1:n.-853G>C
NM_023110.2:c.-853G>C	NP_075598.2:n.-853G>C
NM_001354367.1:c.-853G>C	NP_001341296.1:n.-853G>C
NM_001354368.1:c.-853G>C	NP_001341297.1:n.-853G>C
NM_001354370.1:c.-853G>C	NP_001341299.1:n.-853G>C