Canonical Allele Identifier: CA8170349

Gene: FA2H

Linked Data

• ClinVar Variation Id: 447318
• ClinVar RCV Id: RCV000518709 ; RCV000633034 ; RCV001310336 ; RCV001848887
• dbSNP Id: rs150427439
• ExAC: 16:74750359 C / T
• gnomAD v2: 16-74750359-C-T
• gnomAD v3: 16-74716461-C-T
• gnomAD v4: 16-74716461-C-T
• MyVariant Identifiers: chr16:g.74750359C>T (hg19) ; chr16:g.74716461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74716461C>T , CM000678.2:g.74716461C>T	GRCh38
NC_000016.9:g.74750359C>T , CM000678.1:g.74750359C>T	GRCh37
NC_000016.8:g.73307860C>T	NCBI36
NG_017070.1:g.63371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.925G>A MANE Select	ENSP00000219368.3:p.Val309Ile
ENST00000219368.7:c.925G>A	ENSP00000219368.3:p.Val309Ile
ENST00000562145.1:n.646G>A
ENST00000567683.5:c.*204G>A	ENSP00000455126.1:n.*204G>A
NM_024306.4:c.925G>A	NP_077282.3:p.Val309Ile
XM_011523319.1:c.685G>A	XP_011521621.1:p.Val229Ile
XM_011523317.3:c.*1789G>A	XP_011521619.1:n.*1789G>A
XM_011523319.2:c.685G>A	XP_011521621.1:p.Val229Ile
NM_024306.5:c.925G>A MANE Select	NP_077282.3:p.Val309Ile