Canonical Allele Identifier: CA8170302

Gene: FA2H

Linked Data

• ClinVar Variation Id: 320491
• ClinVar RCV Id: RCV000357673 ; RCV000827111 ; RCV001086914 ; RCV000517834
• dbSNP Id: rs140017632
• ExAC: 16:74748094 C / G
• gnomAD v2: 16-74748094-C-G
• gnomAD v3: 16-74714196-C-G
• gnomAD v4: 16-74714196-C-G
• MyVariant Identifiers: chr16:g.74748094C>G (hg19) ; chr16:g.74714196C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74714196C>G , CM000678.2:g.74714196C>G	GRCh38
NC_000016.9:g.74748094C>G , CM000678.1:g.74748094C>G	GRCh37
NC_000016.8:g.73305595C>G	NCBI36
NG_017070.1:g.65636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.1113G>C MANE Select	ENSP00000219368.3:p.Thr371=
ENST00000219368.7:c.1113G>C	ENSP00000219368.3:p.Thr371=
ENST00000562145.1:n.834G>C
ENST00000567683.5:c.*392G>C	ENSP00000455126.1:n.*392G>C
NM_024306.4:c.1113G>C	NP_077282.3:p.Thr371=
XM_011523319.1:c.873G>C	XP_011521621.1:p.Thr291=
XM_011523319.2:c.873G>C	XP_011521621.1:p.Thr291=
NM_024306.5:c.1113G>C MANE Select	NP_077282.3:p.Thr371=