Canonical Allele Identifier: CA8170303

Gene: FA2H

Linked Data

• ClinVar Variation Id: 444377
• ClinVar RCV Id: RCV000513492 ; RCV000541410 ; RCV001117253 ; RCV001848878
• dbSNP Id: rs141854925
• ExAC: 16:74748095 G / A
• gnomAD v2: 16-74748095-G-A
• gnomAD v3: 16-74714197-G-A
• gnomAD v4: 16-74714197-G-A
• MyVariant Identifiers: chr16:g.74748095G>A (hg19) ; chr16:g.74714197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74714197G>A , CM000678.2:g.74714197G>A	GRCh38
NC_000016.9:g.74748095G>A , CM000678.1:g.74748095G>A	GRCh37
NC_000016.8:g.73305596G>A	NCBI36
NG_017070.1:g.65635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.1112C>T MANE Select	ENSP00000219368.3:p.Thr371Met
ENST00000219368.7:c.1112C>T	ENSP00000219368.3:p.Thr371Met
ENST00000562145.1:n.833C>T
ENST00000567683.5:c.*391C>T	ENSP00000455126.1:n.*391C>T
NM_024306.4:c.1112C>T	NP_077282.3:p.Thr371Met
XM_011523319.1:c.872C>T	XP_011521621.1:p.Thr291Met
XM_011523319.2:c.872C>T	XP_011521621.1:p.Thr291Met
NM_024306.5:c.1112C>T MANE Select	NP_077282.3:p.Thr371Met