Canonical Allele Identifier: CA1295288
Gene: HMCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294295
ClinVar RCV Id: RCV000370934 RCV000961338
dbSNP Id: rs16824983
ExAC: 1:186136031 T / C
gnomAD v2: 1-186136031-T-C
gnomAD v3: 1-186166899-T-C
gnomAD v4: 1-186166899-T-C
MyVariant Identifiers: chr1:g.186136031T>C (hg19) chr1:g.186166899T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186166899T>C , CM000663.2:g.186166899T>C GRCh38
NC_000001.10:g.186136031T>C , CM000663.1:g.186136031T>C GRCh37
NC_000001.9:g.184402654T>C NCBI36
NG_011841.1:g.437349T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15531T>C MANE Select ENSP00000271588.4:p.Cys5177=
ENST00000271588.8:c.15531T>C ENSP00000271588.4:p.Cys5177=
ENST00000475585.1:n.163-4438T>C
NM_031935.2:c.15531T>C NP_114141.2:p.Cys5177=
XM_011510037.1:c.15246T>C XP_011508339.1:p.Cys5082=
XM_011510038.1:c.15531T>C XP_011508340.1:p.Cys5177=
XM_011510038.3:c.15531T>C XP_011508340.1:p.Cys5177=
XM_017002437.1:c.13554T>C XP_016857926.1:p.Cys4518=
NM_031935.3:c.15531T>C MANE Select NP_114141.2:p.Cys5177=
Search 100 bp 5'
Search 100 bp 3'