Canonical Allele Identifier: CA8170581

Gene: FA2H

Linked Data

• ClinVar Variation Id: 241461
• ClinVar RCV Id: RCV000514460 ; RCV000419332 ; RCV001084384 ; RCV001848010 ; RCV001115913
• dbSNP Id: rs147632811
• ExAC: 16:74773946 C / T
• gnomAD v2: 16-74773946-C-T
• gnomAD v3: 16-74740048-C-T
• gnomAD v4: 16-74740048-C-T
• COSMIC: COSM195853
• MyVariant Identifiers: chr16:g.74773946C>T (hg19) ; chr16:g.74740048C>T (hg38)
• PubMed: PMID:23812641 ; PMID:24299421

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74740048C>T , CM000678.2:g.74740048C>T	GRCh38
NC_000016.9:g.74773946C>T , CM000678.1:g.74773946C>T	GRCh37
NC_000016.8:g.73331447C>T	NCBI36
NG_017070.1:g.39784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.338G>A MANE Select	ENSP00000219368.3:p.Arg113Gln
ENST00000219368.7:c.338G>A	ENSP00000219368.3:p.Arg113Gln
ENST00000567683.5:c.338G>A	ENSP00000455126.1:p.Arg113Gln
ENST00000569949.1:c.140G>A	ENSP00000464576.1:p.Arg47Gln
NM_024306.4:c.338G>A	NP_077282.3:p.Arg113Gln
XM_011523317.1:c.338G>A	XP_011521619.1:p.Arg113Gln
XM_011523318.1:c.338G>A	XP_011521620.1:p.Arg113Gln
XM_011523319.1:c.98G>A	XP_011521621.1:p.Arg33Gln
XM_011523317.3:c.338G>A	XP_011521619.1:p.Arg113Gln
XM_011523319.2:c.98G>A	XP_011521621.1:p.Arg33Gln
NM_024306.5:c.338G>A MANE Select	NP_077282.3:p.Arg113Gln