Canonical Allele Identifier: CA1294129

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 294231
• ClinVar RCV Id: RCV000378061 ; RCV002059387
• dbSNP Id: rs10157742
• ExAC: 1:186086578 G / A
• gnomAD v2: 1-186086578-G-A
• gnomAD v3: 1-186117446-G-A
• gnomAD v4: 1-186117446-G-A
• MyVariant Identifiers: chr1:g.186086578G>A (hg19) ; chr1:g.186117446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186117446G>A , CM000663.2:g.186117446G>A	GRCh38
NC_000001.10:g.186086578G>A , CM000663.1:g.186086578G>A	GRCh37
NC_000001.9:g.184353201G>A	NCBI36
NG_011841.1:g.387896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.11684-13G>A MANE Select	ENSP00000271588.4:n.11684-13G>A
ENST00000271588.8:c.11684-13G>A	ENSP00000271588.4:n.11684-13G>A
NM_031935.2:c.11684-13G>A	NP_114141.2:n.11684-13G>A
XM_011510037.1:c.11399-13G>A	XP_011508339.1:n.11399-13G>A
XM_011510038.1:c.11684-13G>A	XP_011508340.1:n.11684-13G>A
XM_011510039.1:c.11684-13G>A	XP_011508341.1:n.11684-13G>A
XM_011510038.3:c.11684-13G>A	XP_011508340.1:n.11684-13G>A
XM_017002437.1:c.9707-13G>A	XP_016857926.1:n.9707-13G>A
NM_031935.3:c.11684-13G>A MANE Select	NP_114141.2:n.11684-13G>A