Canonical Allele Identifier: CA8170305

Gene: FA2H

Linked Data

• ClinVar Variation Id: 320492
• ClinVar RCV Id: RCV000262979 ; RCV000863033 ; RCV002056508 ; RCV001848662
• dbSNP Id: rs200545714
• ExAC: 16:74748120 T / G
• gnomAD v2: 16-74748120-T-G
• gnomAD v3: 16-74714222-T-G
• gnomAD v4: 16-74714222-T-G
• MyVariant Identifiers: chr16:g.74748120T>G (hg19) ; chr16:g.74714222T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74714222T>G , CM000678.2:g.74714222T>G	GRCh38
NC_000016.9:g.74748120T>G , CM000678.1:g.74748120T>G	GRCh37
NC_000016.8:g.73305621T>G	NCBI36
NG_017070.1:g.65610A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.1087A>C MANE Select	ENSP00000219368.3:p.Thr363Pro
ENST00000219368.7:c.1087A>C	ENSP00000219368.3:p.Thr363Pro
ENST00000562145.1:n.808A>C
ENST00000567683.5:c.*366A>C	ENSP00000455126.1:n.*366A>C
NM_024306.4:c.1087A>C	NP_077282.3:p.Thr363Pro
XM_011523319.1:c.847A>C	XP_011521621.1:p.Thr283Pro
XM_011523319.2:c.847A>C	XP_011521621.1:p.Thr283Pro
NM_024306.5:c.1087A>C MANE Select	NP_077282.3:p.Thr363Pro