Canonical Allele Identifier: CA343935048

Gene: HMCN1

Linked Data

• dbSNP Id: rs571125128
• gnomAD v2: 1-186143659-T-G
• gnomAD v4: 1-186174527-T-G
• MyVariant Identifiers: chr1:g.186143659T>G (hg19) ; chr1:g.186174527T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174527T>G , CM000663.2:g.186174527T>G	GRCh38
NC_000001.10:g.186143659T>G , CM000663.1:g.186143659T>G	GRCh37
NC_000001.9:g.184410282T>G	NCBI36
NG_011841.1:g.444977T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15828T>G MANE Select	ENSP00000271588.4:p.Cys5276Trp
ENST00000271588.8:c.15828T>G	ENSP00000271588.4:p.Cys5276Trp
ENST00000414277.1:c.204T>G	ENSP00000406205.1:p.Cys68Trp
NM_031935.2:c.15828T>G	NP_114141.2:p.Cys5276Trp
XM_011510037.1:c.15543T>G	XP_011508339.1:p.Cys5181Trp
XM_011510038.1:c.15828T>G	XP_011508340.1:p.Cys5276Trp
XM_011510038.3:c.15828T>G	XP_011508340.1:p.Cys5276Trp
XM_017002437.1:c.13851T>G	XP_016857926.1:p.Cys4617Trp
NM_031935.3:c.15828T>G MANE Select	NP_114141.2:p.Cys5276Trp