Canonical Allele Identifier: CA343933751

Gene: HMCN1

Linked Data

• dbSNP Id: rs75161007
• gnomAD v2: 1-186141181-C-A
• gnomAD v4: 1-186172049-C-A
• MyVariant Identifiers: chr1:g.186141181C>A (hg19) ; chr1:g.186172049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186172049C>A , CM000663.2:g.186172049C>A	GRCh38
NC_000001.10:g.186141181C>A , CM000663.1:g.186141181C>A	GRCh37
NC_000001.9:g.184407804C>A	NCBI36
NG_011841.1:g.442499C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15732C>A MANE Select	ENSP00000271588.4:p.His5244Gln
ENST00000271588.8:c.15732C>A	ENSP00000271588.4:p.His5244Gln
ENST00000414277.1:c.108C>A	ENSP00000406205.1:p.His36Gln
ENST00000475585.1:n.320C>A
NM_031935.2:c.15732C>A	NP_114141.2:p.His5244Gln
XM_011510037.1:c.15447C>A	XP_011508339.1:p.His5149Gln
XM_011510038.1:c.15732C>A	XP_011508340.1:p.His5244Gln
XM_011510038.3:c.15732C>A	XP_011508340.1:p.His5244Gln
XM_017002437.1:c.13755C>A	XP_016857926.1:p.His4585Gln
NM_031935.3:c.15732C>A MANE Select	NP_114141.2:p.His5244Gln