Canonical Allele Identifier: CA6345728
Gene: HEPACAM HGNC NCBI
COSMIC:
COSM924468
gnomAD v2:
11:124793862 G / A
gnomAD v3:
11:124923966 G / A
gnomAD v4:
chr11-124923966-G-A
Joint Max Group AF 0.00003233 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.0000178 (AMR)
ClinVar RCV:
RCV000335539
RCV002520693
ClinVar Variation:
303332
dbSNP:
781748998
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124923966G>A , CM000673.2:g.124923966G>A GRCh38
NC_000011.9:g.124793862G>A , CM000673.1:g.124793862G>A GRCh37
NC_000011.8:g.124299072G>A NCBI36
NG_029603.1:g.17447C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703807.1:c.472C>T ENSP00000515485.1:p.Leu158=
ENST00000298251.5:c.472C>T MANE Select ENSP00000298251.4:p.Leu158=
ENST00000298251.4:c.472C>T ENSP00000298251.4:p.Leu158=
ENST00000526273.1:n.244C>T
NM_152722.4:c.472C>T NP_689935.2:p.Leu158=
XM_005271449.1:c.472C>T XP_005271506.1:p.Leu158=
XM_006718786.1:c.472C>T XP_006718849.1:p.Leu158=
XM_011542669.1:c.472C>T XP_011540971.1:p.Leu158=
XM_005271449.2:c.472C>T XP_005271506.1:p.Leu158=
XM_017017361.1:c.472C>T XP_016872850.1:p.Leu158=
XR_001748429.2:n.325-19434G>A
NM_152722.5:c.472C>T MANE Select NP_689935.2:p.Leu158=
Search 100 bp 5'
Search 100 bp 3'