Canonical Allele Identifier: CA1295360
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186172053A>G
GRCh37 chr1:g.186141185A>G
Revel Score:
ENST00000271588 (MANE Select) 0.380
ENST00000367492 0.380
ENST00000414277 0.380
gnomAD v2:
1:186141185 A / G
gnomAD v4:
chr1-186172053-A-G
Joint Max Group AF 0.00002863 (SAS)
Exomes Max Group AF 0.00002995 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186172053A>G , CM000663.2:g.186172053A>G GRCh38
NC_000001.10:g.186141185A>G , CM000663.1:g.186141185A>G GRCh37
NC_000001.9:g.184407808A>G NCBI36
NG_011841.1:g.442503A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15736A>G MANE Select ENSP00000271588.4:p.Lys5246Glu
ENST00000271588.8:c.15736A>G ENSP00000271588.4:p.Lys5246Glu
ENST00000414277.1:c.112A>G ENSP00000406205.1:p.Lys38Glu
ENST00000475585.1:n.324A>G
NM_031935.2:c.15736A>G NP_114141.2:p.Lys5246Glu
XM_011510037.1:c.15451A>G XP_011508339.1:p.Lys5151Glu
XM_011510038.1:c.15736A>G XP_011508340.1:p.Lys5246Glu
XM_011510038.3:c.15736A>G XP_011508340.1:p.Lys5246Glu
XM_017002437.1:c.13759A>G XP_016857926.1:p.Lys4587Glu
NM_031935.3:c.15736A>G MANE Select NP_114141.2:p.Lys5246Glu
Search 100 bp 5'
Search 100 bp 3'