Canonical Allele Identifier: CA10648922
Gene: FA2H HGNC NCBI

Linked Data

ClinVar Variation Id: 320468
ClinVar RCV Id: RCV000367039
dbSNP Id: rs886052284
gnomAD v2: 16-74747177-G-T
gnomAD v3: 16-74713279-G-T
gnomAD v4: 16-74713279-G-T
MyVariant Identifiers: chr16:g.74747177G>T (hg19) chr16:g.74713279G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713279G>T , CM000678.2:g.74713279G>T GRCh38
NC_000016.9:g.74747177G>T , CM000678.1:g.74747177G>T GRCh37
NC_000016.8:g.73304678G>T NCBI36
NG_017070.1:g.66553C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*911C>A MANE Select ENSP00000219368.3:n.*911C>A
ENST00000219368.7:c.*911C>A ENSP00000219368.3:n.*911C>A
ENST00000562145.1:n.1751C>A
NM_024306.4:c.*911C>A NP_077282.3:n.*911C>A
XM_011523319.1:c.*911C>A XP_011521621.1:n.*911C>A
XM_011523319.2:c.*911C>A XP_011521621.1:n.*911C>A
NM_024306.5:c.*911C>A MANE Select NP_077282.3:n.*911C>A
Search 100 bp 5'
Search 100 bp 3'