Canonical Allele Identifier: CA2982706

Gene: FGF5

Linked Data

• dbSNP Id: rs376474142
• ExAC: 4:81207604 A / C
• gnomAD v2: 4-81207604-A-C
• MyVariant Identifiers: chr4:g.81207604A>C (hg19) ; chr4:g.80286450A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286450A>C , CM000666.2:g.80286450A>C	GRCh38
NC_000004.11:g.81207604A>C , CM000666.1:g.81207604A>C	GRCh37
NC_000004.10:g.81426628A>C	NCBI36
NG_029501.1:g.24863A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.585A>C MANE Select	ENSP00000311697.7:p.Arg195Ser
ENST00000312465.11:c.585A>C	ENSP00000311697.7:p.Arg195Ser
ENST00000456523.3:c.*109A>C	ENSP00000398353.3:n.*109A>C
ENST00000503413.1:n.534A>C
ENST00000507780.1:c.342+11438A>C	ENSP00000423903.1:n.342+11438A>C
NM_001291812.1:c.156A>C	NP_001278741.1:p.Arg52Ser
NM_004464.3:c.585A>C	NP_004455.2:p.Arg195Ser
NM_033143.2:c.*109A>C	NP_149134.1:n.*109A>C
NM_001291812.2:c.156A>C	NP_001278741.1:p.Arg52Ser
NM_004464.4:c.585A>C MANE Select	NP_004455.2:p.Arg195Ser