Canonical Allele Identifier: CA10648057
Gene: FA2H HGNC NCBI

Linked Data

ClinVar Variation Id: 320478
ClinVar RCV Id: RCV000281435
dbSNP Id: rs187456324
gnomAD v2: 16-74747568-C-T
gnomAD v3: 16-74713670-C-T
gnomAD v4: 16-74713670-C-T
MyVariant Identifiers: chr16:g.74747568C>T (hg19) chr16:g.74713670C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713670C>T , CM000678.2:g.74713670C>T GRCh38
NC_000016.9:g.74747568C>T , CM000678.1:g.74747568C>T GRCh37
NC_000016.8:g.73305069C>T NCBI36
NG_017070.1:g.66162G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*520G>A MANE Select ENSP00000219368.3:n.*520G>A
ENST00000219368.7:c.*520G>A ENSP00000219368.3:n.*520G>A
ENST00000562145.1:n.1360G>A
ENST00000567683.5:c.*918G>A ENSP00000455126.1:n.*918G>A
NM_024306.4:c.*520G>A NP_077282.3:n.*520G>A
XM_011523319.1:c.*520G>A XP_011521621.1:n.*520G>A
XM_011523319.2:c.*520G>A XP_011521621.1:n.*520G>A
NM_024306.5:c.*520G>A MANE Select NP_077282.3:n.*520G>A
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