Canonical Allele Identifier: CA2232921848

Gene: FA2H

Linked Data

• dbSNP Id: rs994822334
• gnomAD v4: 16-74713352-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74713352C>A , CM000678.2:g.74713352C>A	GRCh38
NC_000016.9:g.74747250C>A , CM000678.1:g.74747250C>A	GRCh37
NC_000016.8:g.73304751C>A	NCBI36
NG_017070.1:g.66480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.*838G>T MANE Select	ENSP00000219368.3:n.*838G>T
ENST00000219368.7:c.*838G>T	ENSP00000219368.3:n.*838G>T
ENST00000562145.1:n.1678G>T
NM_024306.4:c.*838G>T	NP_077282.3:n.*838G>T
XM_011523319.1:c.*838G>T	XP_011521621.1:n.*838G>T
XM_011523319.2:c.*838G>T	XP_011521621.1:n.*838G>T
NM_024306.5:c.*838G>T MANE Select	NP_077282.3:n.*838G>T