Canonical Allele Identifier: CA1295652

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 294313
• ClinVar RCV Id: RCV000399058 ; RCV003556311
• dbSNP Id: rs748032823
• ExAC: 1:186158895 G / A
• gnomAD v2: 1-186158895-G-A
• gnomAD v3: 1-186189763-G-A
• gnomAD v4: 1-186189763-G-A
• MyVariant Identifiers: chr1:g.186158895G>A (hg19) ; chr1:g.186189763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186189763G>A , CM000663.2:g.186189763G>A	GRCh38
NC_000001.10:g.186158895G>A , CM000663.1:g.186158895G>A	GRCh37
NC_000001.9:g.184425518G>A	NCBI36
NG_011841.1:g.460213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.16793G>A MANE Select	ENSP00000271588.4:p.Arg5598Gln
ENST00000271588.8:c.16793G>A	ENSP00000271588.4:p.Arg5598Gln
NM_031935.2:c.16793G>A	NP_114141.2:p.Arg5598Gln
XM_011510037.1:c.16508G>A	XP_011508339.1:p.Arg5503Gln
XM_011510038.1:c.16442G>A	XP_011508340.1:p.Arg5481Gln
XR_922364.1:n.961-3918C>T
XR_922365.1:n.961-3918C>T
XR_922366.1:n.961-3918C>T
XR_922367.1:n.961-3918C>T
XM_011510038.3:c.16442G>A	XP_011508340.1:p.Arg5481Gln
XM_017002437.1:c.14816G>A	XP_016857926.1:p.Arg4939Gln
NM_031935.3:c.16793G>A MANE Select	NP_114141.2:p.Arg5598Gln