Canonical Allele Identifier: CA8170490
Gene: FA2H HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.74726298C>A
GRCh37 chr16:g.74760196C>A
gnomAD v2:
16:74760196 C / A
gnomAD v3:
16:74726298 C / A
gnomAD v4:
chr16-74726298-C-A
Joint Max Group AF 0.00064867 (AFR)
Genomes Max Group AF 0.00068421 (AFR)
Exomes Max Group AF 0.00046912 (AFR)
ClinVar RCV:
RCV000344071
RCV000865404
ClinVar Variation:
320497
dbSNP:
150423523
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74726298C>A , CM000678.2:g.74726298C>A GRCh38
NC_000016.9:g.74760196C>A , CM000678.1:g.74760196C>A GRCh37
NC_000016.8:g.73317697C>A NCBI36
NG_017070.1:g.53534G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.540G>T MANE Select ENSP00000219368.3:p.Val180=
ENST00000219368.7:c.540G>T ENSP00000219368.3:p.Val180=
ENST00000567683.5:c.364-7138G>T ENSP00000455126.1:n.364-7138G>T
ENST00000569949.1:c.342G>T ENSP00000464576.1:p.Val114=
NM_024306.4:c.540G>T NP_077282.3:p.Val180=
XM_011523317.1:c.540G>T XP_011521619.1:p.Val180=
XM_011523318.1:c.540G>T XP_011521620.1:p.Val180=
XM_011523319.1:c.300G>T XP_011521621.1:p.Val100=
XM_011523317.3:c.540G>T XP_011521619.1:p.Val180=
XM_011523319.2:c.300G>T XP_011521621.1:p.Val100=
NM_024306.5:c.540G>T MANE Select NP_077282.3:p.Val180=
Search 100 bp 5'
Search 100 bp 3'