Canonical Allele Identifier: CA8170371

Gene: FA2H

Linked Data

• ClinVar Variation Id: 320495
• ClinVar RCV Id: RCV000383560 ; RCV000416009 ; RCV001080196 ; RCV001848663 ; RCV002307485
• dbSNP Id: rs199815871
• ExAC: 16:74750440 C / T
• gnomAD v2: 16-74750440-C-T
• gnomAD v3: 16-74716542-C-T
• gnomAD v4: 16-74716542-C-T
• MyVariant Identifiers: chr16:g.74750440C>T (hg19) ; chr16:g.74716542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74716542C>T , CM000678.2:g.74716542C>T	GRCh38
NC_000016.9:g.74750440C>T , CM000678.1:g.74750440C>T	GRCh37
NC_000016.8:g.73307941C>T	NCBI36
NG_017070.1:g.63290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.844G>A MANE Select	ENSP00000219368.3:p.Gly282Ser
ENST00000219368.7:c.844G>A	ENSP00000219368.3:p.Gly282Ser
ENST00000562145.1:n.565G>A
ENST00000567683.5:c.*123G>A	ENSP00000455126.1:n.*123G>A
NM_024306.4:c.844G>A	NP_077282.3:p.Gly282Ser
XM_011523319.1:c.604G>A	XP_011521621.1:p.Gly202Ser
XM_011523317.3:c.*1708G>A	XP_011521619.1:n.*1708G>A
XM_011523319.2:c.604G>A	XP_011521621.1:p.Gly202Ser
NM_024306.5:c.844G>A MANE Select	NP_077282.3:p.Gly282Ser