Canonical Allele Identifier: CA33502300
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186172060C>T
GRCh37 chr1:g.186141192C>T
Revel Score:
ENST00000271588 (MANE Select) 0.746
ENST00000367492 0.746
ENST00000414277 0.746
gnomAD v2:
1:186141192 C / T
gnomAD v3:
1:186172060 C / T
gnomAD v4:
chr1-186172060-C-T
Joint Max Group AF 0.00002908 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002829 (NFE)
ClinVar RCV:
RCV001930236
ClinVar Variation:
1408838
dbSNP:
199563247
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186172060C>T , CM000663.2:g.186172060C>T GRCh38
NC_000001.10:g.186141192C>T , CM000663.1:g.186141192C>T GRCh37
NC_000001.9:g.184407815C>T NCBI36
NG_011841.1:g.442510C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15743C>T MANE Select ENSP00000271588.4:p.Thr5248Ile
ENST00000271588.8:c.15743C>T ENSP00000271588.4:p.Thr5248Ile
ENST00000414277.1:c.119C>T ENSP00000406205.1:p.Thr40Ile
ENST00000475585.1:n.331C>T
NM_031935.2:c.15743C>T NP_114141.2:p.Thr5248Ile
XM_011510037.1:c.15458C>T XP_011508339.1:p.Thr5153Ile
XM_011510038.1:c.15743C>T XP_011508340.1:p.Thr5248Ile
XM_011510038.3:c.15743C>T XP_011508340.1:p.Thr5248Ile
XM_017002437.1:c.13766C>T XP_016857926.1:p.Thr4589Ile
NM_031935.3:c.15743C>T MANE Select NP_114141.2:p.Thr5248Ile
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