Canonical Allele Identifier: CA343935023

Gene: HMCN1

Linked Data

• dbSNP Id: rs1652437843
• gnomAD v3: 1-186174523-A-T
• gnomAD v4: 1-186174523-A-T
• MyVariant Identifiers: chr1:g.186143655A>T (hg19) ; chr1:g.186174523A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174523A>T , CM000663.2:g.186174523A>T	GRCh38
NC_000001.10:g.186143655A>T , CM000663.1:g.186143655A>T	GRCh37
NC_000001.9:g.184410278A>T	NCBI36
NG_011841.1:g.444973A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15824A>T MANE Select	ENSP00000271588.4:p.Glu5275Val
ENST00000271588.8:c.15824A>T	ENSP00000271588.4:p.Glu5275Val
ENST00000414277.1:c.200A>T	ENSP00000406205.1:p.Glu67Val
NM_031935.2:c.15824A>T	NP_114141.2:p.Glu5275Val
XM_011510037.1:c.15539A>T	XP_011508339.1:p.Glu5180Val
XM_011510038.1:c.15824A>T	XP_011508340.1:p.Glu5275Val
XM_011510038.3:c.15824A>T	XP_011508340.1:p.Glu5275Val
XM_017002437.1:c.13847A>T	XP_016857926.1:p.Glu4616Val
NM_031935.3:c.15824A>T MANE Select	NP_114141.2:p.Glu5275Val