Canonical Allele Identifier: CA2982703

Gene: FGF5

Linked Data

• dbSNP Id: rs781595517
• ExAC: 4:81207591 C / A
• gnomAD v2: 4-81207591-C-A
• gnomAD v3: 4-80286437-C-A
• gnomAD v4: 4-80286437-C-A
• MyVariant Identifiers: chr4:g.81207591C>A (hg19) ; chr4:g.80286437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286437C>A , CM000666.2:g.80286437C>A	GRCh38
NC_000004.11:g.81207591C>A , CM000666.1:g.81207591C>A	GRCh37
NC_000004.10:g.81426615C>A	NCBI36
NG_029501.1:g.24850C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.572C>A MANE Select	ENSP00000311697.7:p.Ala191Asp
ENST00000312465.11:c.572C>A	ENSP00000311697.7:p.Ala191Asp
ENST00000456523.3:c.*96C>A	ENSP00000398353.3:n.*96C>A
ENST00000503413.1:n.521C>A
ENST00000507780.1:c.342+11425C>A	ENSP00000423903.1:n.342+11425C>A
NM_001291812.1:c.143C>A	NP_001278741.1:p.Ala48Asp
NM_004464.3:c.572C>A	NP_004455.2:p.Ala191Asp
NM_033143.2:c.*96C>A	NP_149134.1:n.*96C>A
NM_001291812.2:c.143C>A	NP_001278741.1:p.Ala48Asp
NM_004464.4:c.572C>A MANE Select	NP_004455.2:p.Ala191Asp