Canonical Allele Identifier: CA343885918

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 2816559
• ClinVar RCV Id: RCV003708871
• MyVariant Identifiers: chr1:g.185984519T>C (hg19) ; chr1:g.186015387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186015387T>C , CM000663.2:g.186015387T>C	GRCh38
NC_000001.10:g.185984519T>C , CM000663.1:g.185984519T>C	GRCh37
NC_000001.9:g.184251142T>C	NCBI36
NG_011841.1:g.285837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.4859T>C MANE Select	ENSP00000271588.4:p.Val1620Ala
ENST00000271588.8:c.4859T>C	ENSP00000271588.4:p.Val1620Ala
NM_031935.2:c.4859T>C	NP_114141.2:p.Val1620Ala
XM_011510037.1:c.4859T>C	XP_011508339.1:p.Val1620Ala
XM_011510038.1:c.4859T>C	XP_011508340.1:p.Val1620Ala
XM_011510039.1:c.4859T>C	XP_011508341.1:p.Val1620Ala
XM_011510040.1:c.4859T>C	XP_011508342.1:p.Val1620Ala
XM_011510041.1:c.4859T>C	XP_011508343.1:p.Val1620Ala
XM_011510038.3:c.4859T>C	XP_011508340.1:p.Val1620Ala
XM_011510041.3:c.4859T>C	XP_011508343.1:p.Val1620Ala
XM_017002437.1:c.2882T>C	XP_016857926.1:p.Val961Ala
XM_024450118.1:c.4859T>C	XP_024305886.1:p.Val1620Ala
NM_031935.3:c.4859T>C MANE Select	NP_114141.2:p.Val1620Ala