Canonical Allele Identifier: CA1290710
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.185734745C>A
GRCh37 chr1:g.185703877C>A
gnomAD v2:
1:185703877 C / A
gnomAD v3:
1:185734745 C / A
gnomAD v4:
chr1-185734745-C-A
Joint Max Group AF 0.00000616 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000456 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185734745C>A , CM000663.2:g.185734745C>A GRCh38
NC_000001.10:g.185703877C>A , CM000663.1:g.185703877C>A GRCh37
NC_000001.9:g.183970500C>A NCBI36
NG_011841.1:g.5195C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.-35C>A MANE Select ENSP00000271588.4:n.-35C>A
ENST00000271588.8:c.-35C>A ENSP00000271588.4:n.-35C>A
NM_031935.2:c.-35C>A NP_114141.2:n.-35C>A
XM_011510037.1:c.-35C>A XP_011508339.1:n.-35C>A
XM_011510038.1:c.-35C>A XP_011508340.1:n.-35C>A
XM_011510039.1:c.-35C>A XP_011508341.1:n.-35C>A
XM_011510040.1:c.-35C>A XP_011508342.1:n.-35C>A
XM_011510041.1:c.-35C>A XP_011508343.1:n.-35C>A
XM_011510038.3:c.-35C>A XP_011508340.1:n.-35C>A
XM_011510041.3:c.-35C>A XP_011508343.1:n.-35C>A
XM_024450118.1:c.-35C>A XP_024305886.1:n.-35C>A
NM_031935.3:c.-35C>A MANE Select NP_114141.2:n.-35C>A
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