Canonical Allele Identifier: CA1295362
Gene: HMCN1 HGNC NCBI
COSMIC:
COSM901059
MyVariant.info:
GRCh38 chr1:g.186172062C>T
GRCh37 chr1:g.186141194C>T
Revel Score:
ENST00000271588 (MANE Select) 0.736
ENST00000367492 0.736
ENST00000414277 0.736
gnomAD v2:
1:186141194 C / T
gnomAD v3:
1:186172062 C / T
gnomAD v4:
chr1-186172062-C-T
Joint Max Group AF 0.00001426 (SAS)
Exomes Max Group AF 0.00001779 (AMR)
ClinVar RCV:
RCV002600669
ClinVar Variation:
1912160
dbSNP:
536895474
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186172062C>T , CM000663.2:g.186172062C>T GRCh38
NC_000001.10:g.186141194C>T , CM000663.1:g.186141194C>T GRCh37
NC_000001.9:g.184407817C>T NCBI36
NG_011841.1:g.442512C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15745C>T MANE Select ENSP00000271588.4:p.Arg5249Cys
ENST00000271588.8:c.15745C>T ENSP00000271588.4:p.Arg5249Cys
ENST00000414277.1:c.121C>T ENSP00000406205.1:p.Arg41Cys
ENST00000475585.1:n.333C>T
NM_031935.2:c.15745C>T NP_114141.2:p.Arg5249Cys
XM_011510037.1:c.15460C>T XP_011508339.1:p.Arg5154Cys
XM_011510038.1:c.15745C>T XP_011508340.1:p.Arg5249Cys
XM_011510038.3:c.15745C>T XP_011508340.1:p.Arg5249Cys
XM_017002437.1:c.13768C>T XP_016857926.1:p.Arg4590Cys
NM_031935.3:c.15745C>T MANE Select NP_114141.2:p.Arg5249Cys
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