Canonical Allele Identifier: CA2982691

Gene: FGF5

Linked Data

• dbSNP Id: rs761442219
• ExAC: 4:81207547 A / C
• gnomAD v2: 4-81207547-A-C
• gnomAD v4: 4-80286393-A-C
• MyVariant Identifiers: chr4:g.81207547A>C (hg19) ; chr4:g.80286393A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286393A>C , CM000666.2:g.80286393A>C	GRCh38
NC_000004.11:g.81207547A>C , CM000666.1:g.81207547A>C	GRCh37
NC_000004.10:g.81426571A>C	NCBI36
NG_029501.1:g.24806A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.528A>C MANE Select	ENSP00000311697.7:p.Ser176=
ENST00000312465.11:c.528A>C	ENSP00000311697.7:p.Ser176=
ENST00000456523.3:c.*52A>C	ENSP00000398353.3:n.*52A>C
ENST00000503413.1:n.477A>C
ENST00000507780.1:c.342+11381A>C	ENSP00000423903.1:n.342+11381A>C
NM_001291812.1:c.99A>C	NP_001278741.1:p.Ser33=
NM_004464.3:c.528A>C	NP_004455.2:p.Ser176=
NM_033143.2:c.*52A>C	NP_149134.1:n.*52A>C
NM_001291812.2:c.99A>C	NP_001278741.1:p.Ser33=
NM_004464.4:c.528A>C MANE Select	NP_004455.2:p.Ser176=