Canonical Allele Identifier: CA343907175

Gene: HMCN1

Linked Data

• gnomAD v4: 1-186130053-A-G
• MyVariant Identifiers: chr1:g.186099185A>G (hg19) ; chr1:g.186130053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186130053A>G , CM000663.2:g.186130053A>G	GRCh38
NC_000001.10:g.186099185A>G , CM000663.1:g.186099185A>G	GRCh37
NC_000001.9:g.184365808A>G	NCBI36
NG_011841.1:g.400503A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12992A>G MANE Select	ENSP00000271588.4:p.Glu4331Gly
ENST00000271588.8:c.12992A>G	ENSP00000271588.4:p.Glu4331Gly
NM_031935.2:c.12992A>G	NP_114141.2:p.Glu4331Gly
XM_011510037.1:c.12707A>G	XP_011508339.1:p.Glu4236Gly
XM_011510038.1:c.12992A>G	XP_011508340.1:p.Glu4331Gly
XM_011510039.1:c.12992A>G	XP_011508341.1:p.Glu4331Gly
XM_011510038.3:c.12992A>G	XP_011508340.1:p.Glu4331Gly
XM_017002437.1:c.11015A>G	XP_016857926.1:p.Glu3672Gly
NM_031935.3:c.12992A>G MANE Select	NP_114141.2:p.Glu4331Gly