Canonical Allele Identifier: CA283758627

Gene: FA2H

Linked Data

• ClinVar Variation Id: 1937175
• ClinVar RCV Id: RCV002653137
• dbSNP Id: rs572400760
• gnomAD v2: 16-74750471-G-C
• gnomAD v3: 16-74716573-G-C
• gnomAD v4: 16-74716573-G-C
• MyVariant Identifiers: chr16:g.74750471G>C (hg19) ; chr16:g.74716573G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74716573G>C , CM000678.2:g.74716573G>C	GRCh38
NC_000016.9:g.74750471G>C , CM000678.1:g.74750471G>C	GRCh37
NC_000016.8:g.73307972G>C	NCBI36
NG_017070.1:g.63259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.813C>G MANE Select	ENSP00000219368.3:p.Val271=
ENST00000219368.7:c.813C>G	ENSP00000219368.3:p.Val271=
ENST00000562145.1:n.534C>G
ENST00000567683.5:c.*92C>G	ENSP00000455126.1:n.*92C>G
NM_024306.4:c.813C>G	NP_077282.3:p.Val271=
XM_011523319.1:c.573C>G	XP_011521621.1:p.Val191=
XM_011523317.3:c.*1677C>G	XP_011521619.1:n.*1677C>G
XM_011523319.2:c.573C>G	XP_011521621.1:p.Val191=
NM_024306.5:c.813C>G MANE Select	NP_077282.3:p.Val271=