Canonical Allele Identifier: CA623328312

Gene: FA2H

Linked Data

• dbSNP Id: rs1156371646
• gnomAD v2: 16-74747430-A-G
• gnomAD v3: 16-74713532-A-G
• gnomAD v4: 16-74713532-A-G
• MyVariant Identifiers: chr16:g.74747430A>G (hg19) ; chr16:g.74713532A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74713532A>G , CM000678.2:g.74713532A>G	GRCh38
NC_000016.9:g.74747430A>G , CM000678.1:g.74747430A>G	GRCh37
NC_000016.8:g.73304931A>G	NCBI36
NG_017070.1:g.66300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.*658T>C MANE Select	ENSP00000219368.3:n.*658T>C
ENST00000219368.7:c.*658T>C	ENSP00000219368.3:n.*658T>C
ENST00000562145.1:n.1498T>C
NM_024306.4:c.*658T>C	NP_077282.3:n.*658T>C
XM_011523319.1:c.*658T>C	XP_011521621.1:n.*658T>C
XM_011523319.2:c.*658T>C	XP_011521621.1:n.*658T>C
NM_024306.5:c.*658T>C MANE Select	NP_077282.3:n.*658T>C