Canonical Allele Identifier: CA553082853

Gene: FGF5

Linked Data

• dbSNP Id: rs1349851733
• gnomAD v2: 4-81207849-A-C
• gnomAD v4: 4-80286695-A-C
• MyVariant Identifiers: chr4:g.81207849A>C (hg19) ; chr4:g.80286695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286695A>C , CM000666.2:g.80286695A>C	GRCh38
NC_000004.11:g.81207849A>C , CM000666.1:g.81207849A>C	GRCh37
NC_000004.10:g.81426873A>C	NCBI36
NG_029501.1:g.25108A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.*23A>C MANE Select	ENSP00000311697.7:n.*23A>C
ENST00000312465.11:c.*23A>C	ENSP00000311697.7:n.*23A>C
ENST00000456523.3:c.*354A>C	ENSP00000398353.3:n.*354A>C
ENST00000503413.1:n.779A>C
ENST00000507780.1:c.342+11683A>C	ENSP00000423903.1:n.342+11683A>C
NM_001291812.1:c.*23A>C	NP_001278741.1:n.*23A>C
NM_004464.3:c.*23A>C	NP_004455.2:n.*23A>C
NM_033143.2:c.*354A>C	NP_149134.1:n.*354A>C
NM_001291812.2:c.*23A>C	NP_001278741.1:n.*23A>C
NM_004464.4:c.*23A>C MANE Select	NP_004455.2:n.*23A>C