Canonical Allele Identifier: CA1293223
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186082866T>C
GRCh37 chr1:g.186051998T>C
Revel Score:
ENST00000271588 (MANE Select) 0.780
ENST00000367492 0.780
gnomAD v2:
1:186051998 T / C
gnomAD v3:
1:186082866 T / C
gnomAD v4:
chr1-186082866-T-C
Joint Max Group AF 0.01530147 (AFR)
Genomes Max Group AF 0.01460957 (AFR)
Exomes Max Group AF 0.01548514 (AFR)
ClinVar Allele:
278883
ClinVar RCV:
RCV000305557
RCV000886355
ClinVar Variation:
294200
dbSNP:
114135070
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186082866T>C , CM000663.2:g.186082866T>C GRCh38
NC_000001.10:g.186051998T>C , CM000663.1:g.186051998T>C GRCh37
NC_000001.9:g.184318621T>C NCBI36
NG_011841.1:g.353316T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.8789T>C MANE Select ENSP00000271588.4:p.Ile2930Thr
ENST00000271588.8:c.8789T>C ENSP00000271588.4:p.Ile2930Thr
NM_031935.2:c.8789T>C NP_114141.2:p.Ile2930Thr
XM_011510037.1:c.8789T>C XP_011508339.1:p.Ile2930Thr
XM_011510038.1:c.8789T>C XP_011508340.1:p.Ile2930Thr
XM_011510039.1:c.8789T>C XP_011508341.1:p.Ile2930Thr
XM_011510040.1:c.8789T>C XP_011508342.1:p.Ile2930Thr
XM_011510041.1:c.8789T>C XP_011508343.1:p.Ile2930Thr
XM_011510038.3:c.8789T>C XP_011508340.1:p.Ile2930Thr
XM_011510041.3:c.8789T>C XP_011508343.1:p.Ile2930Thr
XM_017002437.1:c.6812T>C XP_016857926.1:p.Ile2271Thr
XM_024450118.1:c.8789T>C XP_024305886.1:p.Ile2930Thr
NM_031935.3:c.8789T>C MANE Select NP_114141.2:p.Ile2930Thr
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