Canonical Allele Identifier: CA1293725
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186095390A>G
GRCh37 chr1:g.186064522A>G
Revel Score:
ENST00000271588 (MANE Select) 0.113
ENST00000367492 0.113
gnomAD v2:
1:186064522 A / G
gnomAD v4:
chr1-186095390-A-G
Joint Max Group AF 0.0000103 (NFE)
Exomes Max Group AF 0.00001093 (NFE)
ClinVar RCV:
RCV002603870
ClinVar Variation:
1919404
dbSNP:
759781224
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186095390A>G , CM000663.2:g.186095390A>G GRCh38
NC_000001.10:g.186064522A>G , CM000663.1:g.186064522A>G GRCh37
NC_000001.9:g.184331145A>G NCBI36
NG_011841.1:g.365840A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.10442A>G MANE Select ENSP00000271588.4:p.His3481Arg
ENST00000271588.8:c.10442A>G ENSP00000271588.4:p.His3481Arg
NM_031935.2:c.10442A>G NP_114141.2:p.His3481Arg
XM_011510037.1:c.10157A>G XP_011508339.1:p.His3386Arg
XM_011510038.1:c.10442A>G XP_011508340.1:p.His3481Arg
XM_011510039.1:c.10442A>G XP_011508341.1:p.His3481Arg
XM_011510038.3:c.10442A>G XP_011508340.1:p.His3481Arg
XM_017002437.1:c.8465A>G XP_016857926.1:p.His2822Arg
XM_024450118.1:c.*90A>G XP_024305886.1:n.*90A>G
NM_031935.3:c.10442A>G MANE Select NP_114141.2:p.His3481Arg
Search 100 bp 5'
Search 100 bp 3'