Canonical Allele Identifier: CA1293743
Gene: HMCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294221
ClinVar RCV Id: RCV000334236 RCV002059385
dbSNP Id: rs72720910
ExAC: 1:186064616 T / C
gnomAD v2: 1-186064616-T-C
gnomAD v3: 1-186095484-T-C
gnomAD v4: 1-186095484-T-C
COSMIC: COSM3689201
MyVariant Identifiers: chr1:g.186064616T>C (hg19) chr1:g.186095484T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186095484T>C , CM000663.2:g.186095484T>C GRCh38
NC_000001.10:g.186064616T>C , CM000663.1:g.186064616T>C GRCh37
NC_000001.9:g.184331239T>C NCBI36
NG_011841.1:g.365934T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.10536T>C MANE Select ENSP00000271588.4:p.Ala3512=
ENST00000271588.8:c.10536T>C ENSP00000271588.4:p.Ala3512=
NM_031935.2:c.10536T>C NP_114141.2:p.Ala3512=
XM_011510037.1:c.10251T>C XP_011508339.1:p.Ala3417=
XM_011510038.1:c.10536T>C XP_011508340.1:p.Ala3512=
XM_011510039.1:c.10536T>C XP_011508341.1:p.Ala3512=
XM_011510038.3:c.10536T>C XP_011508340.1:p.Ala3512=
XM_017002437.1:c.8559T>C XP_016857926.1:p.Ala2853=
NM_031935.3:c.10536T>C MANE Select NP_114141.2:p.Ala3512=
Search 100 bp 5'
Search 100 bp 3'