Canonical Allele Identifier: CA1295359
Gene: HMCN1 HGNC NCBI
COSMIC:
COSM5009590 (not active)
MyVariant.info:
GRCh38 chr1:g.186172049C>G
GRCh37 chr1:g.186141181C>G
Revel Score:
ENST00000271588 (MANE Select) 0.259
ENST00000367492 0.259
ENST00000414277 0.259
gnomAD v2:
1:186141181 C / G
gnomAD v3:
1:186172049 C / G
gnomAD v4:
chr1-186172049-C-G
Joint Max Group AF 0.08699529 (EAS)
Genomes Max Group AF 0.06849513 (EAS)
Exomes Max Group AF 0.08874232 (EAS)
ClinVar Allele:
278045
ClinVar RCV:
RCV000364750
RCV000955822
ClinVar Variation:
294298
dbSNP:
75161007
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186172049C>G , CM000663.2:g.186172049C>G GRCh38
NC_000001.10:g.186141181C>G , CM000663.1:g.186141181C>G GRCh37
NC_000001.9:g.184407804C>G NCBI36
NG_011841.1:g.442499C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15732C>G MANE Select ENSP00000271588.4:p.His5244Gln
ENST00000271588.8:c.15732C>G ENSP00000271588.4:p.His5244Gln
ENST00000414277.1:c.108C>G ENSP00000406205.1:p.His36Gln
ENST00000475585.1:n.320C>G
NM_031935.2:c.15732C>G NP_114141.2:p.His5244Gln
XM_011510037.1:c.15447C>G XP_011508339.1:p.His5149Gln
XM_011510038.1:c.15732C>G XP_011508340.1:p.His5244Gln
XM_011510038.3:c.15732C>G XP_011508340.1:p.His5244Gln
XM_017002437.1:c.13755C>G XP_016857926.1:p.His4585Gln
NM_031935.3:c.15732C>G MANE Select NP_114141.2:p.His5244Gln
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