Canonical Allele Identifier: CA6345820
Gene: HEPACAM HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.124925068G>C
GRCh37 chr11:g.124794964G>C
Revel Score:
ENST00000298251 (MANE Select) 0.050
ENST00000374961 0.050
gnomAD v2:
11:124794964 G / C
gnomAD v3:
11:124925068 G / C
gnomAD v4:
chr11-124925068-G-C
Joint Max Group AF 0.00007684 (NFE)
Genomes Max Group AF 0.00010175 (NFE)
Exomes Max Group AF 0.00007156 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124925068G>C , CM000673.2:g.124925068G>C GRCh38
NC_000011.9:g.124794964G>C , CM000673.1:g.124794964G>C GRCh37
NC_000011.8:g.124300174G>C NCBI36
NG_029603.1:g.16345C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703807.1:c.87C>G ENSP00000515485.1:p.Asp29Glu
ENST00000298251.5:c.87C>G MANE Select ENSP00000298251.4:p.Asp29Glu
ENST00000298251.4:c.87C>G ENSP00000298251.4:p.Asp29Glu
ENST00000528971.1:n.493C>G
NM_152722.4:c.87C>G NP_689935.2:p.Asp29Glu
XM_005271449.1:c.87C>G XP_005271506.1:p.Asp29Glu
XM_006718786.1:c.87C>G XP_006718849.1:p.Asp29Glu
XM_011542669.1:c.87C>G XP_011540971.1:p.Asp29Glu
XM_005271449.2:c.87C>G XP_005271506.1:p.Asp29Glu
XM_017017361.1:c.87C>G XP_016872850.1:p.Asp29Glu
XR_001748429.2:n.325-18332G>C
NM_152722.5:c.87C>G MANE Select NP_689935.2:p.Asp29Glu
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