Canonical Allele Identifier: CA422327187

Gene: HMCN1

Linked Data

• dbSNP Id: rs1240619289
• gnomAD v2: 1-185984430-C-A
• gnomAD v4: 1-186015298-C-A
• MyVariant Identifiers: chr1:g.185984430C>A (hg19) ; chr1:g.186015298C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186015298C>A , CM000663.2:g.186015298C>A	GRCh38
NC_000001.10:g.185984430C>A , CM000663.1:g.185984430C>A	GRCh37
NC_000001.9:g.184251053C>A	NCBI36
NG_011841.1:g.285748C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.4770C>A MANE Select	ENSP00000271588.4:p.Ser1590=
ENST00000271588.8:c.4770C>A	ENSP00000271588.4:p.Ser1590=
NM_031935.2:c.4770C>A	NP_114141.2:p.Ser1590=
XM_011510037.1:c.4770C>A	XP_011508339.1:p.Ser1590=
XM_011510038.1:c.4770C>A	XP_011508340.1:p.Ser1590=
XM_011510039.1:c.4770C>A	XP_011508341.1:p.Ser1590=
XM_011510040.1:c.4770C>A	XP_011508342.1:p.Ser1590=
XM_011510041.1:c.4770C>A	XP_011508343.1:p.Ser1590=
XM_011510038.3:c.4770C>A	XP_011508340.1:p.Ser1590=
XM_011510041.3:c.4770C>A	XP_011508343.1:p.Ser1590=
XM_017002437.1:c.2793C>A	XP_016857926.1:p.Ser931=
XM_024450118.1:c.4770C>A	XP_024305886.1:p.Ser1590=
NM_031935.3:c.4770C>A MANE Select	NP_114141.2:p.Ser1590=