Canonical Allele Identifier: CA1295399
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186174521T>A
GRCh37 chr1:g.186143653T>A
Revel Score:
ENST00000271588 (MANE Select) 0.688
ENST00000367492 0.688
ENST00000414277 0.688
gnomAD v2:
1:186143653 T / A
gnomAD v3:
1:186174521 T / A
gnomAD v4:
chr1-186174521-T-A
Joint Max Group AF 0.00000689 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
dbSNP:
57832192
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186174521T>A , CM000663.2:g.186174521T>A GRCh38
NC_000001.10:g.186143653T>A , CM000663.1:g.186143653T>A GRCh37
NC_000001.9:g.184410276T>A NCBI36
NG_011841.1:g.444971T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15822T>A MANE Select ENSP00000271588.4:p.Asp5274Glu
ENST00000271588.8:c.15822T>A ENSP00000271588.4:p.Asp5274Glu
ENST00000414277.1:c.198T>A ENSP00000406205.1:p.Asp66Glu
NM_031935.2:c.15822T>A NP_114141.2:p.Asp5274Glu
XM_011510037.1:c.15537T>A XP_011508339.1:p.Asp5179Glu
XM_011510038.1:c.15822T>A XP_011508340.1:p.Asp5274Glu
XM_011510038.3:c.15822T>A XP_011508340.1:p.Asp5274Glu
XM_017002437.1:c.13845T>A XP_016857926.1:p.Asp4615Glu
NM_031935.3:c.15822T>A MANE Select NP_114141.2:p.Asp5274Glu
Search 100 bp 5'
Search 100 bp 3'