Canonical Allele Identifier: CA1295398
Gene: HMCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294299
ClinVar RCV Id: RCV000272538 RCV000974876
dbSNP Id: rs57832192
ExAC: 1:186143653 T / C
gnomAD v2: 1-186143653-T-C
gnomAD v3: 1-186174521-T-C
gnomAD v4: 1-186174521-T-C
MyVariant Identifiers: chr1:g.186143653T>C (hg19) chr1:g.186174521T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15822T>C MANE Select ENSP00000271588.4:p.Asp5274=
ENST00000271588.8:c.15822T>C ENSP00000271588.4:p.Asp5274=
ENST00000414277.1:c.198T>C ENSP00000406205.1:p.Asp66=
NM_031935.2:c.15822T>C NP_114141.2:p.Asp5274=
XM_011510037.1:c.15537T>C XP_011508339.1:p.Asp5179=
XM_011510038.1:c.15822T>C XP_011508340.1:p.Asp5274=
XM_011510038.3:c.15822T>C XP_011508340.1:p.Asp5274=
XM_017002437.1:c.13845T>C XP_016857926.1:p.Asp4615=
NM_031935.3:c.15822T>C MANE Select NP_114141.2:p.Asp5274=
Search 100 bp 5'
Search 100 bp 3'