Canonical Allele Identifier: CA343907163

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 2413236
• ClinVar RCV Id: RCV003110239
• gnomAD v4: 1-186130050-C-T
• MyVariant Identifiers: chr1:g.186099182C>T (hg19) ; chr1:g.186130050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186130050C>T , CM000663.2:g.186130050C>T	GRCh38
NC_000001.10:g.186099182C>T , CM000663.1:g.186099182C>T	GRCh37
NC_000001.9:g.184365805C>T	NCBI36
NG_011841.1:g.400500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12989C>T MANE Select	ENSP00000271588.4:p.Ala4330Val
ENST00000271588.8:c.12989C>T	ENSP00000271588.4:p.Ala4330Val
NM_031935.2:c.12989C>T	NP_114141.2:p.Ala4330Val
XM_011510037.1:c.12704C>T	XP_011508339.1:p.Ala4235Val
XM_011510038.1:c.12989C>T	XP_011508340.1:p.Ala4330Val
XM_011510039.1:c.12989C>T	XP_011508341.1:p.Ala4330Val
XM_011510038.3:c.12989C>T	XP_011508340.1:p.Ala4330Val
XM_017002437.1:c.11012C>T	XP_016857926.1:p.Ala3671Val
NM_031935.3:c.12989C>T MANE Select	NP_114141.2:p.Ala4330Val