This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA1294243
Gene: HMCN1 HGNC NCBI
ClinVar RCV:
RCV000309057
RCV001859768
RCV004021398
ClinVar Variation:
294241
dbSNP:
146671871
gnomAD v2:
1:186088994 G / A
gnomAD v3:
1:186119862 G / A
gnomAD v4:
chr1-186119862-G-A
Joint Max Group AF 0.00137104 (NFE)
Genomes Max Group AF 0.00191665 (AMR)
Exomes Max Group AF 0.00138026 (NFE)
MyVariant.info:
GRCh38 chr1:g.186119862G>A
GRCh37 chr1:g.186088994G>A
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186119862G>A , CM000663.2:g.186119862G>A GRCh38
NC_000001.10:g.186088994G>A , CM000663.1:g.186088994G>A GRCh37
NC_000001.9:g.184355617G>A NCBI36
NG_011841.1:g.390312G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12074G>A MANE Select ENSP00000271588.4:p.Gly4025Asp
ENST00000271588.8:c.12074G>A ENSP00000271588.4:p.Gly4025Asp
NM_031935.2:c.12074G>A NP_114141.2:p.Gly4025Asp
XM_011510037.1:c.11789G>A XP_011508339.1:p.Gly3930Asp
XM_011510038.1:c.12074G>A XP_011508340.1:p.Gly4025Asp
XM_011510039.1:c.12074G>A XP_011508341.1:p.Gly4025Asp
XM_011510038.3:c.12074G>A XP_011508340.1:p.Gly4025Asp
XM_017002437.1:c.10097G>A XP_016857926.1:p.Gly3366Asp
NM_031935.3:c.12074G>A MANE Select NP_114141.2:p.Gly4025Asp
Search 100 bp 5'
Search 100 bp 3'