Canonical Allele Identifier: CA1293145
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186078110G>A
GRCh37 chr1:g.186047242G>A
Revel Score:
ENST00000271588 (MANE Select) 0.801
ENST00000367492 0.801
gnomAD v2:
1:186047242 G / A
gnomAD v3:
1:186078110 G / A
gnomAD v4:
chr1-186078110-G-A
Joint Max Group AF 0.00022114 (AMR)
Genomes Max Group AF 0.00002263 (AMR)
Exomes Max Group AF 0.00025976 (AMR)
ClinVar Allele:
278869
ClinVar RCV:
RCV000363550
RCV001859763
RCV004021392
ClinVar Variation:
294199
dbSNP:
749154171
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186078110G>A , CM000663.2:g.186078110G>A GRCh38
NC_000001.10:g.186047242G>A , CM000663.1:g.186047242G>A GRCh37
NC_000001.9:g.184313865G>A NCBI36
NG_011841.1:g.348560G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.8489G>A MANE Select ENSP00000271588.4:p.Gly2830Glu
ENST00000271588.8:c.8489G>A ENSP00000271588.4:p.Gly2830Glu
NM_031935.2:c.8489G>A NP_114141.2:p.Gly2830Glu
XM_011510037.1:c.8489G>A XP_011508339.1:p.Gly2830Glu
XM_011510038.1:c.8489G>A XP_011508340.1:p.Gly2830Glu
XM_011510039.1:c.8489G>A XP_011508341.1:p.Gly2830Glu
XM_011510040.1:c.8489G>A XP_011508342.1:p.Gly2830Glu
XM_011510041.1:c.8489G>A XP_011508343.1:p.Gly2830Glu
XM_011510038.3:c.8489G>A XP_011508340.1:p.Gly2830Glu
XM_011510041.3:c.8489G>A XP_011508343.1:p.Gly2830Glu
XM_017002437.1:c.6512G>A XP_016857926.1:p.Gly2171Glu
XM_024450118.1:c.8489G>A XP_024305886.1:p.Gly2830Glu
NM_031935.3:c.8489G>A MANE Select NP_114141.2:p.Gly2830Glu
Search 100 bp 5'
Search 100 bp 3'