Canonical Allele Identifier: CA6345625
Gene: HEPACAM HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.124922760G>A
GRCh37 chr11:g.124792656G>A
Revel Score:
ENST00000298251 (MANE Select) 0.081
ENST00000374961 0.081
gnomAD v2:
11:124792656 G / A
gnomAD v3:
11:124922760 G / A
gnomAD v4:
chr11-124922760-G-A
Joint Max Group AF 0.00049148 (NFE)
Genomes Max Group AF 0.00082141 (NFE)
Exomes Max Group AF 0.00046216 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124922760G>A , CM000673.2:g.124922760G>A GRCh38
NC_000011.9:g.124792656G>A , CM000673.1:g.124792656G>A GRCh37
NC_000011.8:g.124297866G>A NCBI36
NG_029603.1:g.18653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703807.1:c.862C>T ENSP00000515485.1:p.Arg288Cys
ENST00000298251.5:c.862C>T MANE Select ENSP00000298251.4:p.Arg288Cys
ENST00000298251.4:c.862C>T ENSP00000298251.4:p.Arg288Cys
NM_152722.4:c.862C>T NP_689935.2:p.Arg288Cys
XM_005271449.1:c.862C>T XP_005271506.1:p.Arg288Cys
XM_006718786.1:c.883C>T XP_006718849.1:p.Arg295Cys
XM_011542669.1:c.883C>T XP_011540971.1:p.Arg295Cys
XM_005271449.2:c.862C>T XP_005271506.1:p.Arg288Cys
XM_017017361.1:c.862C>T XP_016872850.1:p.Arg288Cys
XR_001748429.2:n.325-20640G>A
NM_152722.5:c.862C>T MANE Select NP_689935.2:p.Arg288Cys
Search 100 bp 5'
Search 100 bp 3'