Canonical Allele Identifier: CA8170413
Gene: FA2H HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.74718992T>C
GRCh37 chr16:g.74752890T>C
Revel Score:
ENST00000219368 (MANE Select) 0.956
ENST00000544337 0.956
gnomAD v2:
16:74752890 T / C
gnomAD v3:
16:74718992 T / C
gnomAD v4:
chr16-74718992-T-C
Joint Max Group AF 0.00001962 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001914 (NFE)
ClinVar RCV:
RCV000414400
RCV001861420
ClinVar Variation:
372861
dbSNP:
761645282
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74718992T>C , CM000678.2:g.74718992T>C GRCh38
NC_000016.9:g.74752890T>C , CM000678.1:g.74752890T>C GRCh37
NC_000016.8:g.73310391T>C NCBI36
NG_017070.1:g.60840A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.782A>G MANE Select ENSP00000219368.3:p.His261Arg
ENST00000219368.7:c.782A>G ENSP00000219368.3:p.His261Arg
ENST00000567683.5:c.*61A>G ENSP00000455126.1:n.*61A>G
NM_024306.4:c.782A>G NP_077282.3:p.His261Arg
XM_011523317.1:c.782A>G XP_011521619.1:p.His261Arg
XM_011523318.1:c.782A>G XP_011521620.1:p.His261Arg
XM_011523319.1:c.542A>G XP_011521621.1:p.His181Arg
XM_011523317.3:c.782A>G XP_011521619.1:p.His261Arg
XM_011523319.2:c.542A>G XP_011521621.1:p.His181Arg
NM_024306.5:c.782A>G MANE Select NP_077282.3:p.His261Arg
Search 100 bp 5'
Search 100 bp 3'