Canonical Allele Identifier: CA33473934
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186082780T>C
GRCh37 chr1:g.186051912T>C
gnomAD v3:
1:186082780 T / C
gnomAD v4:
chr1-186082780-T-C
Joint Max Group AF 0.00004484 (AMR)
Genomes Max Group AF 0.00002263 (AMR)
Exomes Max Group AF 0.00002312 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186082780T>C , CM000663.2:g.186082780T>C GRCh38
NC_000001.10:g.186051912T>C , CM000663.1:g.186051912T>C GRCh37
NC_000001.9:g.184318535T>C NCBI36
NG_011841.1:g.353230T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.8788-85T>C MANE Select ENSP00000271588.4:n.8788-85T>C
ENST00000271588.8:c.8788-85T>C ENSP00000271588.4:n.8788-85T>C
NM_031935.2:c.8788-85T>C NP_114141.2:n.8788-85T>C
XM_011510037.1:c.8788-85T>C XP_011508339.1:n.8788-85T>C
XM_011510038.1:c.8788-85T>C XP_011508340.1:n.8788-85T>C
XM_011510039.1:c.8788-85T>C XP_011508341.1:n.8788-85T>C
XM_011510040.1:c.8788-85T>C XP_011508342.1:n.8788-85T>C
XM_011510041.1:c.8788-85T>C XP_011508343.1:n.8788-85T>C
XM_011510038.3:c.8788-85T>C XP_011508340.1:n.8788-85T>C
XM_011510041.3:c.8788-85T>C XP_011508343.1:n.8788-85T>C
XM_017002437.1:c.6811-85T>C XP_016857926.1:n.6811-85T>C
XM_024450118.1:c.8788-85T>C XP_024305886.1:n.8788-85T>C
NM_031935.3:c.8788-85T>C MANE Select NP_114141.2:n.8788-85T>C
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