Canonical Allele Identifier: CA716102618

Gene: FAH

Linked Data

• dbSNP Id: rs1161843496
• gnomAD v3: 15-80152876-C-G
• gnomAD v4: 15-80152876-C-G
• MyVariant Identifiers: chr15:g.80445218C>G (hg19) ; chr15:g.80152876C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152876C>G , CM000677.2:g.80152876C>G	GRCh38
NC_000015.9:g.80445218C>G , CM000677.1:g.80445218C>G	GRCh37
NC_000015.8:g.78232273C>G	NCBI36
NG_012833.1:g.4878C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-179C>G	ENSP00000507680.1:n.-179C>G
ENST00000261755.9:c.-30+35C>G	ENSP00000261755.5:n.-30+35C>G
ENST00000407106.5:c.-59C>G	ENSP00000385080.1:n.-59C>G
ENST00000537726.5:n.53+35C>G
ENST00000558022.5:c.-29-150C>G	ENSP00000453152.1:n.-29-150C>G
ENST00000558767.5:n.83C>G
ENST00000561369.1:n.22C>G
XM_024449872.1:c.-59C>G	XP_024305640.1:n.-59C>G
NM_001374377.1:c.-59C>G	NP_001361306.1:n.-59C>G
NM_001374380.1:c.-30+35C>G	NP_001361309.1:n.-30+35C>G