Canonical Allele Identifier: CA052525
Gene: FA2H HGNC NCBI

Linked Data

ClinVar Variation Id: 242579
ClinVar RCV Id: RCV001854843
dbSNP Id: rs794729215
gnomAD v4: 16-74774639-G-T
MyVariant Identifiers: chr16:g.74808537G>T (hg19) chr16:g.74774639G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774639G>T , CM000678.2:g.74774639G>T GRCh38
NC_000016.9:g.74808537G>T , CM000678.1:g.74808537G>T GRCh37
NC_000016.8:g.73366038G>T NCBI36
NG_017070.1:g.5193C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.117C>A MANE Select ENSP00000219368.3:p.Phe39Leu
ENST00000219368.7:c.117C>A ENSP00000219368.3:p.Phe39Leu
ENST00000567683.5:c.117C>A ENSP00000455126.1:p.Phe39Leu
NM_024306.4:c.117C>A NP_077282.3:p.Phe39Leu
XM_011523317.1:c.117C>A XP_011521619.1:p.Phe39Leu
XM_011523318.1:c.117C>A XP_011521620.1:p.Phe39Leu
XM_011523317.3:c.117C>A XP_011521619.1:p.Phe39Leu
NM_024306.5:c.117C>A MANE Select NP_077282.3:p.Phe39Leu
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