Canonical Allele Identifier: CA728632264
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.185734659A>G
GRCh37 chr1:g.185703791A>G
gnomAD v3:
1:185734659 A / G
gnomAD v4:
chr1-185734659-A-G
Joint Max Group AF 0.00007052 (AMR)
Genomes Max Group AF 0.00008876 (AMR)
Exomes Max Group AF 0.00003305 (AMR)
ClinVar RCV:
RCV001101189
ClinVar Variation:
876421
dbSNP:
1413424553
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185734659A>G , CM000663.2:g.185734659A>G GRCh38
NC_000001.10:g.185703791A>G , CM000663.1:g.185703791A>G GRCh37
NC_000001.9:g.183970414A>G NCBI36
NG_011841.1:g.5109A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.-121A>G MANE Select ENSP00000271588.4:n.-121A>G
ENST00000271588.8:c.-121A>G ENSP00000271588.4:n.-121A>G
NM_031935.2:c.-121A>G NP_114141.2:n.-121A>G
XM_011510037.1:c.-121A>G XP_011508339.1:n.-121A>G
XM_011510038.1:c.-121A>G XP_011508340.1:n.-121A>G
XM_011510039.1:c.-121A>G XP_011508341.1:n.-121A>G
XM_011510040.1:c.-121A>G XP_011508342.1:n.-121A>G
XM_011510041.1:c.-121A>G XP_011508343.1:n.-121A>G
XM_011510038.3:c.-121A>G XP_011508340.1:n.-121A>G
XM_011510041.3:c.-121A>G XP_011508343.1:n.-121A>G
XM_024450118.1:c.-121A>G XP_024305886.1:n.-121A>G
NM_031935.3:c.-121A>G MANE Select NP_114141.2:n.-121A>G
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