Canonical Allele Identifier: CA357397964

Gene: FGF5

Linked Data

• dbSNP Id: rs1429329987
• gnomAD v2: 4-81207648-A-T
• COSMIC: COSM4454979
• MyVariant Identifiers: chr4:g.81207648A>T (hg19) ; chr4:g.80286494A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286494A>T , CM000666.2:g.80286494A>T	GRCh38
NC_000004.11:g.81207648A>T , CM000666.1:g.81207648A>T	GRCh37
NC_000004.10:g.81426672A>T	NCBI36
NG_029501.1:g.24907A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.629A>T MANE Select	ENSP00000311697.7:p.His210Leu
ENST00000312465.11:c.629A>T	ENSP00000311697.7:p.His210Leu
ENST00000456523.3:c.*153A>T	ENSP00000398353.3:n.*153A>T
ENST00000503413.1:n.578A>T
ENST00000507780.1:c.342+11482A>T	ENSP00000423903.1:n.342+11482A>T
NM_001291812.1:c.200A>T	NP_001278741.1:p.His67Leu
NM_004464.3:c.629A>T	NP_004455.2:p.His210Leu
NM_033143.2:c.*153A>T	NP_149134.1:n.*153A>T
NM_001291812.2:c.200A>T	NP_001278741.1:p.His67Leu
NM_004464.4:c.629A>T MANE Select	NP_004455.2:p.His210Leu