Canonical Allele Identifier: CA1293332
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186087327T>C
GRCh37 chr1:g.186056459T>C
Revel Score:
ENST00000271588 (MANE Select) 0.064
ENST00000367492 0.064
gnomAD v2:
1:186056459 T / C
gnomAD v3:
1:186087327 T / C
gnomAD v4:
chr1-186087327-T-C
Joint Max Group AF 0.00009018 (AMR)
Exomes Max Group AF 0.00012086 (AMR)
ClinVar Allele:
1437238
ClinVar RCV:
RCV002004175
RCV003453953
RCV004046155
ClinVar Variation:
1505671
dbSNP:
375407833
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186087327T>C , CM000663.2:g.186087327T>C GRCh38
NC_000001.10:g.186056459T>C , CM000663.1:g.186056459T>C GRCh37
NC_000001.9:g.184323082T>C NCBI36
NG_011841.1:g.357777T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.9157T>C MANE Select ENSP00000271588.4:p.Tyr3053His
ENST00000271588.8:c.9157T>C ENSP00000271588.4:p.Tyr3053His
NM_031935.2:c.9157T>C NP_114141.2:p.Tyr3053His
XM_011510037.1:c.9157T>C XP_011508339.1:p.Tyr3053His
XM_011510038.1:c.9157T>C XP_011508340.1:p.Tyr3053His
XM_011510039.1:c.9157T>C XP_011508341.1:p.Tyr3053His
XM_011510040.1:c.9157T>C XP_011508342.1:p.Tyr3053His
XM_011510041.1:c.9157T>C XP_011508343.1:p.Tyr3053His
XM_011510038.3:c.9157T>C XP_011508340.1:p.Tyr3053His
XM_011510041.3:c.9157T>C XP_011508343.1:p.Tyr3053His
XM_017002437.1:c.7180T>C XP_016857926.1:p.Tyr2394His
XM_024450118.1:c.9157T>C XP_024305886.1:p.Tyr3053His
NM_031935.3:c.9157T>C MANE Select NP_114141.2:p.Tyr3053His
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