Canonical Allele Identifier: CA1295363
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186172063G>A
GRCh37 chr1:g.186141195G>A
Revel Score:
ENST00000271588 (MANE Select) 0.568
ENST00000367492 0.568
ENST00000414277 0.568
gnomAD v2:
1:186141195 G / A
gnomAD v3:
1:186172063 G / A
gnomAD v4:
chr1-186172063-G-A
Joint Max Group AF 0.00001804 (NFE)
Exomes Max Group AF 0.0000183 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186172063G>A , CM000663.2:g.186172063G>A GRCh38
NC_000001.10:g.186141195G>A , CM000663.1:g.186141195G>A GRCh37
NC_000001.9:g.184407818G>A NCBI36
NG_011841.1:g.442513G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15746G>A MANE Select ENSP00000271588.4:p.Arg5249His
ENST00000271588.8:c.15746G>A ENSP00000271588.4:p.Arg5249His
ENST00000414277.1:c.122G>A ENSP00000406205.1:p.Arg41His
ENST00000475585.1:n.334G>A
NM_031935.2:c.15746G>A NP_114141.2:p.Arg5249His
XM_011510037.1:c.15461G>A XP_011508339.1:p.Arg5154His
XM_011510038.1:c.15746G>A XP_011508340.1:p.Arg5249His
XM_011510038.3:c.15746G>A XP_011508340.1:p.Arg5249His
XM_017002437.1:c.13769G>A XP_016857926.1:p.Arg4590His
NM_031935.3:c.15746G>A MANE Select NP_114141.2:p.Arg5249His
Search 100 bp 5'
Search 100 bp 3'