Canonical Allele Identifier: CA260036
Gene: FA2H HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.74719067A>G
GRCh37 chr16:g.74752965A>G
Revel Score:
ENST00000219368 (MANE Select) 0.892
ENST00000544337 0.892
gnomAD v4:
chr16-74719067-A-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000024321
ClinVar Variation:
31624
dbSNP:
387907172
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74719067A>G , CM000678.2:g.74719067A>G GRCh38
NC_000016.9:g.74752965A>G , CM000678.1:g.74752965A>G GRCh37
NC_000016.8:g.73310466A>G NCBI36
NG_017070.1:g.60765T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.707T>C MANE Select ENSP00000219368.3:p.Phe236Ser
ENST00000219368.7:c.707T>C ENSP00000219368.3:p.Phe236Ser
ENST00000567683.5:c.457T>C ENSP00000455126.1:p.Ser153Pro
ENST00000569949.1:c.509T>C ENSP00000464576.1:p.Phe170Ser
NM_024306.4:c.707T>C NP_077282.3:p.Phe236Ser
XM_011523317.1:c.707T>C XP_011521619.1:p.Phe236Ser
XM_011523318.1:c.707T>C XP_011521620.1:p.Phe236Ser
XM_011523319.1:c.467T>C XP_011521621.1:p.Phe156Ser
XM_011523317.3:c.707T>C XP_011521619.1:p.Phe236Ser
XM_011523319.2:c.467T>C XP_011521621.1:p.Phe156Ser
NM_024306.5:c.707T>C MANE Select NP_077282.3:p.Phe236Ser
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