Canonical Allele Identifier: CA33993120
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.185734673A>T
GRCh37 chr1:g.185703805A>T
gnomAD v2:
1:185703805 A / T
gnomAD v3:
1:185734673 A / T
gnomAD v4:
chr1-185734673-A-T
Joint Max Group AF 0.00010954 (EAS)
Genomes Max Group AF 0.00015706 (EAS)
Exomes Max Group AF 0.00006911 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185734673A>T , CM000663.2:g.185734673A>T GRCh38
NC_000001.10:g.185703805A>T , CM000663.1:g.185703805A>T GRCh37
NC_000001.9:g.183970428A>T NCBI36
NG_011841.1:g.5123A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.-107A>T MANE Select ENSP00000271588.4:n.-107A>T
ENST00000271588.8:c.-107A>T ENSP00000271588.4:n.-107A>T
NM_031935.2:c.-107A>T NP_114141.2:n.-107A>T
XM_011510037.1:c.-107A>T XP_011508339.1:n.-107A>T
XM_011510038.1:c.-107A>T XP_011508340.1:n.-107A>T
XM_011510039.1:c.-107A>T XP_011508341.1:n.-107A>T
XM_011510040.1:c.-107A>T XP_011508342.1:n.-107A>T
XM_011510041.1:c.-107A>T XP_011508343.1:n.-107A>T
XM_011510038.3:c.-107A>T XP_011508340.1:n.-107A>T
XM_011510041.3:c.-107A>T XP_011508343.1:n.-107A>T
XM_024450118.1:c.-107A>T XP_024305886.1:n.-107A>T
NM_031935.3:c.-107A>T MANE Select NP_114141.2:n.-107A>T
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