Canonical Allele Identifier: CA1291700

Gene: HMCN1

Linked Data

• dbSNP Id: rs746666320
• ExAC: 1:185962281 T / A
• gnomAD v2: 1-185962281-T-A
• gnomAD v3: 1-185993149-T-A
• gnomAD v4: 1-185993149-T-A
• MyVariant Identifiers: chr1:g.185962281T>A (hg19) ; chr1:g.185993149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185993149T>A , CM000663.2:g.185993149T>A	GRCh38
NC_000001.10:g.185962281T>A , CM000663.1:g.185962281T>A	GRCh37
NC_000001.9:g.184228904T>A	NCBI36
NG_011841.1:g.263599T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271588.9:c.3378-33T>A MANE Select	ENSP00000271588.4:n.3378-33T>A
ENST00000271588.8:c.3378-33T>A	ENSP00000271588.4:n.3378-33T>A
ENST00000485744.5:n.1629-33T>A
NM_031935.2:c.3378-33T>A	NP_114141.2:n.3378-33T>A
XM_011510037.1:c.3378-33T>A	XP_011508339.1:n.3378-33T>A
XM_011510038.1:c.3378-33T>A	XP_011508340.1:n.3378-33T>A
XM_011510039.1:c.3378-33T>A	XP_011508341.1:n.3378-33T>A
XM_011510040.1:c.3378-33T>A	XP_011508342.1:n.3378-33T>A
XM_011510041.1:c.3378-33T>A	XP_011508343.1:n.3378-33T>A
XM_011510038.3:c.3378-33T>A	XP_011508340.1:n.3378-33T>A
XM_011510041.3:c.3378-33T>A	XP_011508343.1:n.3378-33T>A
XM_017002437.1:c.1401-33T>A	XP_016857926.1:n.1401-33T>A
XM_024450118.1:c.3378-33T>A	XP_024305886.1:n.3378-33T>A
NM_031935.3:c.3378-33T>A MANE Select	NP_114141.2:n.3378-33T>A