Canonical Allele Identifier: CA33468386

Gene: HMCN1

Linked Data

• dbSNP Id: rs371338513
• gnomAD v2: 1-186043908-G-T
• MyVariant Identifiers: chr1:g.186043908G>T (hg19) ; chr1:g.186074776G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186074776G>T , CM000663.2:g.186074776G>T	GRCh38
NC_000001.10:g.186043908G>T , CM000663.1:g.186043908G>T	GRCh37
NC_000001.9:g.184310531G>T	NCBI36
NG_011841.1:g.345226G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.8175G>T MANE Select	ENSP00000271588.4:p.Ala2725=
ENST00000271588.8:c.8175G>T	ENSP00000271588.4:p.Ala2725=
NM_031935.2:c.8175G>T	NP_114141.2:p.Ala2725=
XM_011510037.1:c.8175G>T	XP_011508339.1:p.Ala2725=
XM_011510038.1:c.8175G>T	XP_011508340.1:p.Ala2725=
XM_011510039.1:c.8175G>T	XP_011508341.1:p.Ala2725=
XM_011510040.1:c.8175G>T	XP_011508342.1:p.Ala2725=
XM_011510041.1:c.8175G>T	XP_011508343.1:p.Ala2725=
XM_011510038.3:c.8175G>T	XP_011508340.1:p.Ala2725=
XM_011510041.3:c.8175G>T	XP_011508343.1:p.Ala2725=
XM_017002437.1:c.6198G>T	XP_016857926.1:p.Ala2066=
XM_024450118.1:c.8175G>T	XP_024305886.1:p.Ala2725=
NM_031935.3:c.8175G>T MANE Select	NP_114141.2:p.Ala2725=