Canonical Allele Identifier: CA283756948

Gene: FA2H

Linked Data

• dbSNP Id: rs967281034
• gnomAD v3: 16-74713611-G-A
• gnomAD v4: 16-74713611-G-A
• MyVariant Identifiers: chr16:g.74747509G>A (hg19) ; chr16:g.74713611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74713611G>A , CM000678.2:g.74713611G>A	GRCh38
NC_000016.9:g.74747509G>A , CM000678.1:g.74747509G>A	GRCh37
NC_000016.8:g.73305010G>A	NCBI36
NG_017070.1:g.66221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.*579C>T MANE Select	ENSP00000219368.3:n.*579C>T
ENST00000219368.7:c.*579C>T	ENSP00000219368.3:n.*579C>T
ENST00000562145.1:n.1419C>T
ENST00000567683.5:c.*977C>T	ENSP00000455126.1:n.*977C>T
NM_024306.4:c.*579C>T	NP_077282.3:n.*579C>T
XM_011523319.1:c.*579C>T	XP_011521621.1:n.*579C>T
XM_011523319.2:c.*579C>T	XP_011521621.1:n.*579C>T
NM_024306.5:c.*579C>T MANE Select	NP_077282.3:n.*579C>T