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: CA1291669
Gene: HMCN1 HGNC NCBI
ClinVar RCV:
RCV000387325
RCV002522075
ClinVar Variation:
294129
dbSNP:
373402377
gnomAD v2:
1:185959476 C / A
gnomAD v3:
1:185990344 C / A
gnomAD v4:
chr1-185990344-C-A
Joint Max Group AF 0.00002827 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00002712 (NFE)
MyVariant.info:
GRCh38 chr1:g.185990344C>A
GRCh37 chr1:g.185959476C>A
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185990344C>A , CM000663.2:g.185990344C>A GRCh38
NC_000001.10:g.185959476C>A , CM000663.1:g.185959476C>A GRCh37
NC_000001.9:g.184226099C>A NCBI36
NG_011841.1:g.260794C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.3278C>A MANE Select ENSP00000271588.4:p.Ala1093Glu
ENST00000271588.8:c.3278C>A ENSP00000271588.4:p.Ala1093Glu
ENST00000485744.5:n.1529C>A
NM_031935.2:c.3278C>A NP_114141.2:p.Ala1093Glu
XM_011510037.1:c.3278C>A XP_011508339.1:p.Ala1093Glu
XM_011510038.1:c.3278C>A XP_011508340.1:p.Ala1093Glu
XM_011510039.1:c.3278C>A XP_011508341.1:p.Ala1093Glu
XM_011510040.1:c.3278C>A XP_011508342.1:p.Ala1093Glu
XM_011510041.1:c.3278C>A XP_011508343.1:p.Ala1093Glu
XM_011510038.3:c.3278C>A XP_011508340.1:p.Ala1093Glu
XM_011510041.3:c.3278C>A XP_011508343.1:p.Ala1093Glu
XM_017002437.1:c.1301C>A XP_016857926.1:p.Ala434Glu
XM_024450118.1:c.3278C>A XP_024305886.1:p.Ala1093Glu
NM_031935.3:c.3278C>A MANE Select NP_114141.2:p.Ala1093Glu
Search 100 bp 5'
Search 100 bp 3'