Canonical Allele Identifier: CA1294515
Gene: HMCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294258
ClinVar RCV Id: RCV000306372 RCV002059393
dbSNP Id: rs41317491
ExAC: 1:186099180 C / T
gnomAD v2: 1-186099180-C-T
gnomAD v3: 1-186130048-C-T
gnomAD v4: 1-186130048-C-T
MyVariant Identifiers: chr1:g.186099180C>T (hg19) chr1:g.186130048C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186130048C>T , CM000663.2:g.186130048C>T GRCh38
NC_000001.10:g.186099180C>T , CM000663.1:g.186099180C>T GRCh37
NC_000001.9:g.184365803C>T NCBI36
NG_011841.1:g.400498C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12987C>T MANE Select ENSP00000271588.4:p.Thr4329=
ENST00000271588.8:c.12987C>T ENSP00000271588.4:p.Thr4329=
NM_031935.2:c.12987C>T NP_114141.2:p.Thr4329=
XM_011510037.1:c.12702C>T XP_011508339.1:p.Thr4234=
XM_011510038.1:c.12987C>T XP_011508340.1:p.Thr4329=
XM_011510039.1:c.12987C>T XP_011508341.1:p.Thr4329=
XM_011510038.3:c.12987C>T XP_011508340.1:p.Thr4329=
XM_017002437.1:c.11010C>T XP_016857926.1:p.Thr3670=
NM_031935.3:c.12987C>T MANE Select NP_114141.2:p.Thr4329=
Search 100 bp 5'
Search 100 bp 3'