Canonical Allele Identifier: CA343870887

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 2875914
• ClinVar RCV Id: RCV003707499
• gnomAD v4: 1-185994869-G-T
• MyVariant Identifiers: chr1:g.185964001G>T (hg19) ; chr1:g.185994869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185994869G>T , CM000663.2:g.185994869G>T	GRCh38
NC_000001.10:g.185964001G>T , CM000663.1:g.185964001G>T	GRCh37
NC_000001.9:g.184230624G>T	NCBI36
NG_011841.1:g.265319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.3560G>T MANE Select	ENSP00000271588.4:p.Arg1187Ile
ENST00000271588.8:c.3560G>T	ENSP00000271588.4:p.Arg1187Ile
NM_031935.2:c.3560G>T	NP_114141.2:p.Arg1187Ile
XM_011510037.1:c.3560G>T	XP_011508339.1:p.Arg1187Ile
XM_011510038.1:c.3560G>T	XP_011508340.1:p.Arg1187Ile
XM_011510039.1:c.3560G>T	XP_011508341.1:p.Arg1187Ile
XM_011510040.1:c.3560G>T	XP_011508342.1:p.Arg1187Ile
XM_011510041.1:c.3560G>T	XP_011508343.1:p.Arg1187Ile
XM_011510038.3:c.3560G>T	XP_011508340.1:p.Arg1187Ile
XM_011510041.3:c.3560G>T	XP_011508343.1:p.Arg1187Ile
XM_017002437.1:c.1583G>T	XP_016857926.1:p.Arg528Ile
XM_024450118.1:c.3560G>T	XP_024305886.1:p.Arg1187Ile
NM_031935.3:c.3560G>T MANE Select	NP_114141.2:p.Arg1187Ile