Canonical Allele Identifier: CA396769948

Gene: FA2H

Linked Data

• gnomAD v4: 16-74726324-C-T
• MyVariant Identifiers: chr16:g.74760222C>T (hg19) ; chr16:g.74726324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726324C>T , CM000678.2:g.74726324C>T	GRCh38
NC_000016.9:g.74760222C>T , CM000678.1:g.74760222C>T	GRCh37
NC_000016.8:g.73317723C>T	NCBI36
NG_017070.1:g.53508G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000219368.8:c.514G>A MANE Select	ENSP00000219368.3:p.Val172Ile
ENST00000219368.7:c.514G>A	ENSP00000219368.3:p.Val172Ile
ENST00000567683.5:c.364-7164G>A	ENSP00000455126.1:n.364-7164G>A
ENST00000569949.1:c.316G>A	ENSP00000464576.1:p.Val106Ile
NM_024306.4:c.514G>A	NP_077282.3:p.Val172Ile
XM_011523317.1:c.514G>A	XP_011521619.1:p.Val172Ile
XM_011523318.1:c.514G>A	XP_011521620.1:p.Val172Ile
XM_011523319.1:c.274G>A	XP_011521621.1:p.Val92Ile
XM_011523317.3:c.514G>A	XP_011521619.1:p.Val172Ile
XM_011523319.2:c.274G>A	XP_011521621.1:p.Val92Ile
NM_024306.5:c.514G>A MANE Select	NP_077282.3:p.Val172Ile