Canonical Allele Identifier: CA8170582

Gene: FA2H

Linked Data

• ClinVar Variation Id: 381515
• ClinVar RCV Id: RCV000633072 ; RCV001712218 ; RCV001115914 ; RCV001848762 ; RCV001821170 ; RCV002524896
• dbSNP Id: rs141276237
• ExAC: 16:74773947 G / A
• gnomAD v2: 16-74773947-G-A
• gnomAD v3: 16-74740049-G-A
• gnomAD v4: 16-74740049-G-A
• MyVariant Identifiers: chr16:g.74773947G>A (hg19) ; chr16:g.74740049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74740049G>A , CM000678.2:g.74740049G>A	GRCh38
NC_000016.9:g.74773947G>A , CM000678.1:g.74773947G>A	GRCh37
NC_000016.8:g.73331448G>A	NCBI36
NG_017070.1:g.39783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.337C>T MANE Select	ENSP00000219368.3:p.Arg113Trp
ENST00000219368.7:c.337C>T	ENSP00000219368.3:p.Arg113Trp
ENST00000567683.5:c.337C>T	ENSP00000455126.1:p.Arg113Trp
ENST00000569949.1:c.139C>T	ENSP00000464576.1:p.Arg47Trp
NM_024306.4:c.337C>T	NP_077282.3:p.Arg113Trp
XM_011523317.1:c.337C>T	XP_011521619.1:p.Arg113Trp
XM_011523318.1:c.337C>T	XP_011521620.1:p.Arg113Trp
XM_011523319.1:c.97C>T	XP_011521621.1:p.Arg33Trp
XM_011523317.3:c.337C>T	XP_011521619.1:p.Arg113Trp
XM_011523319.2:c.97C>T	XP_011521621.1:p.Arg33Trp
NM_024306.5:c.337C>T MANE Select	NP_077282.3:p.Arg113Trp