Canonical Allele Identifier: CA10648050
Gene: FA2H HGNC NCBI

Linked Data

ClinVar Variation Id: 320475
ClinVar RCV Id: RCV000265847
dbSNP Id: rs886052287
gnomAD v2: 16-74747436-G-A
gnomAD v3: 16-74713538-G-A
gnomAD v4: 16-74713538-G-A
MyVariant Identifiers: chr16:g.74747436G>A (hg19) chr16:g.74713538G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713538G>A , CM000678.2:g.74713538G>A GRCh38
NC_000016.9:g.74747436G>A , CM000678.1:g.74747436G>A GRCh37
NC_000016.8:g.73304937G>A NCBI36
NG_017070.1:g.66294C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*652C>T MANE Select ENSP00000219368.3:n.*652C>T
ENST00000219368.7:c.*652C>T ENSP00000219368.3:n.*652C>T
ENST00000562145.1:n.1492C>T
NM_024306.4:c.*652C>T NP_077282.3:n.*652C>T
XM_011523319.1:c.*652C>T XP_011521621.1:n.*652C>T
XM_011523319.2:c.*652C>T XP_011521621.1:n.*652C>T
NM_024306.5:c.*652C>T MANE Select NP_077282.3:n.*652C>T
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