Canonical Allele Identifier: CA8170617

Gene: FA2H

Linked Data

• ClinVar Variation Id: 320501
• ClinVar RCV Id: RCV000303256 ; RCV001171919 ; RCV001246003 ; RCV001848665 ; RCV002222486 ; RCV002522890
• dbSNP Id: rs527421775
• ExAC: 16:74808422 C / T
• gnomAD v2: 16-74808422-C-T
• gnomAD v3: 16-74774524-C-T
• gnomAD v4: 16-74774524-C-T
• MyVariant Identifiers: chr16:g.74808422C>T (hg19) ; chr16:g.74774524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774524C>T , CM000678.2:g.74774524C>T	GRCh38
NC_000016.9:g.74808422C>T , CM000678.1:g.74808422C>T	GRCh37
NC_000016.8:g.73365923C>T	NCBI36
NG_017070.1:g.5308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.232G>A MANE Select	ENSP00000219368.3:p.Glu78Lys
ENST00000219368.7:c.232G>A	ENSP00000219368.3:p.Glu78Lys
ENST00000567683.5:c.232G>A	ENSP00000455126.1:p.Glu78Lys
NM_024306.4:c.232G>A	NP_077282.3:p.Glu78Lys
XM_011523317.1:c.232G>A	XP_011521619.1:p.Glu78Lys
XM_011523318.1:c.232G>A	XP_011521620.1:p.Glu78Lys
XM_011523317.3:c.232G>A	XP_011521619.1:p.Glu78Lys
NM_024306.5:c.232G>A MANE Select	NP_077282.3:p.Glu78Lys