Canonical Allele Identifier: CA283756793
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs546605325
gnomAD v2: 16-74747221-C-T
gnomAD v3: 16-74713323-C-T
gnomAD v4: 16-74713323-C-T
MyVariant Identifiers: chr16:g.74747221C>T (hg19) chr16:g.74713323C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713323C>T , CM000678.2:g.74713323C>T GRCh38
NC_000016.9:g.74747221C>T , CM000678.1:g.74747221C>T GRCh37
NC_000016.8:g.73304722C>T NCBI36
NG_017070.1:g.66509G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*867G>A MANE Select ENSP00000219368.3:n.*867G>A
ENST00000219368.7:c.*867G>A ENSP00000219368.3:n.*867G>A
ENST00000562145.1:n.1707G>A
NM_024306.4:c.*867G>A NP_077282.3:n.*867G>A
XM_011523319.1:c.*867G>A XP_011521621.1:n.*867G>A
XM_011523319.2:c.*867G>A XP_011521621.1:n.*867G>A
NM_024306.5:c.*867G>A MANE Select NP_077282.3:n.*867G>A
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