Canonical Allele Identifier: CA343931415

Gene: HMCN1

Linked Data

• dbSNP Id: rs1261183979
• gnomAD v2: 1-186064623-G-A
• gnomAD v4: 1-186095491-G-A
• MyVariant Identifiers: chr1:g.186064623G>A (hg19) ; chr1:g.186095491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186095491G>A , CM000663.2:g.186095491G>A	GRCh38
NC_000001.10:g.186064623G>A , CM000663.1:g.186064623G>A	GRCh37
NC_000001.9:g.184331246G>A	NCBI36
NG_011841.1:g.365941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.10543G>A MANE Select	ENSP00000271588.4:p.Val3515Ile
ENST00000271588.8:c.10543G>A	ENSP00000271588.4:p.Val3515Ile
NM_031935.2:c.10543G>A	NP_114141.2:p.Val3515Ile
XM_011510037.1:c.10258G>A	XP_011508339.1:p.Val3420Ile
XM_011510038.1:c.10543G>A	XP_011508340.1:p.Val3515Ile
XM_011510039.1:c.10543G>A	XP_011508341.1:p.Val3515Ile
XM_011510038.3:c.10543G>A	XP_011508340.1:p.Val3515Ile
XM_017002437.1:c.8566G>A	XP_016857926.1:p.Val2856Ile
NM_031935.3:c.10543G>A MANE Select	NP_114141.2:p.Val3515Ile