Canonical Allele Identifier: CA440227937

Gene: FGF5

Linked Data

• dbSNP Id: rs1720726615
• gnomAD v3: 4-80286495-T-C
• gnomAD v4: 4-80286495-T-C
• MyVariant Identifiers: chr4:g.81207649T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286495T>C , CM000666.2:g.80286495T>C	GRCh38
NC_000004.11:g.81207649T>C , CM000666.1:g.81207649T>C	GRCh37
NC_000004.10:g.81426673T>C	NCBI36
NG_029501.1:g.24908T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.630T>C MANE Select	ENSP00000311697.7:p.His210=
ENST00000312465.11:c.630T>C	ENSP00000311697.7:p.His210=
ENST00000456523.3:c.*154T>C	ENSP00000398353.3:n.*154T>C
ENST00000503413.1:n.579T>C
ENST00000507780.1:c.342+11483T>C	ENSP00000423903.1:n.342+11483T>C
NM_001291812.1:c.201T>C	NP_001278741.1:p.His67=
NM_004464.3:c.630T>C	NP_004455.2:p.His210=
NM_033143.2:c.*154T>C	NP_149134.1:n.*154T>C
NM_001291812.2:c.201T>C	NP_001278741.1:p.His67=
NM_004464.4:c.630T>C MANE Select	NP_004455.2:p.His210=