Canonical Allele Identifier: CA1290713
Gene: HMCN1 HGNC NCBI
gnomAD v2:
1:185703882 A / AG
gnomAD v3:
1:185734750 A / AG
gnomAD v4:
chr1-185734750-A-AG
Joint Max Group AF 0.01052637 (SAS)
Genomes Max Group AF 0.00754433 (SAS)
Exomes Max Group AF 0.01058303 (SAS)
ClinVar RCV:
RCV000400263
ClinVar Variation:
294093
dbSNP:
545770705
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185734755dup , CM000663.2:g.185734755dup GRCh38
NC_000001.10:g.185703887dup , CM000663.1:g.185703887dup GRCh37
NC_000001.9:g.183970510dup NCBI36
NG_011841.1:g.5205dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.-25dup MANE Select ENSP00000271588.4:n.-25dup
ENST00000271588.8:c.-25dup ENSP00000271588.4:n.-25dup
NM_031935.2:c.-25dup NP_114141.2:n.-25dup
XM_011510037.1:c.-25dup XP_011508339.1:n.-25dup
XM_011510038.1:c.-25dup XP_011508340.1:n.-25dup
XM_011510039.1:c.-25dup XP_011508341.1:n.-25dup
XM_011510040.1:c.-25dup XP_011508342.1:n.-25dup
XM_011510041.1:c.-25dup XP_011508343.1:n.-25dup
XM_011510038.3:c.-25dup XP_011508340.1:n.-25dup
XM_011510041.3:c.-25dup XP_011508343.1:n.-25dup
XM_024450118.1:c.-25dup XP_024305886.1:n.-25dup
NM_031935.3:c.-25dup MANE Select NP_114141.2:n.-25dup
Search 100 bp 5'
Search 100 bp 3'