Canonical Allele Identifier: CA33457651

Gene: HMCN1

Linked Data

• dbSNP Id: rs922027383
• gnomAD v3: 1-186122848-T-G
• gnomAD v4: 1-186122848-T-G
• MyVariant Identifiers: chr1:g.186091980T>G (hg19) ; chr1:g.186122848T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186122848T>G , CM000663.2:g.186122848T>G	GRCh38
NC_000001.10:g.186091980T>G , CM000663.1:g.186091980T>G	GRCh37
NC_000001.9:g.184358603T>G	NCBI36
NG_011841.1:g.393298T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12230-103T>G MANE Select	ENSP00000271588.4:n.12230-103T>G
ENST00000271588.8:c.12230-103T>G	ENSP00000271588.4:n.12230-103T>G
NM_031935.2:c.12230-103T>G	NP_114141.2:n.12230-103T>G
XM_011510037.1:c.11945-103T>G	XP_011508339.1:n.11945-103T>G
XM_011510038.1:c.12230-103T>G	XP_011508340.1:n.12230-103T>G
XM_011510039.1:c.12230-103T>G	XP_011508341.1:n.12230-103T>G
XM_011510038.3:c.12230-103T>G	XP_011508340.1:n.12230-103T>G
XM_017002437.1:c.10253-103T>G	XP_016857926.1:n.10253-103T>G
NM_031935.3:c.12230-103T>G MANE Select	NP_114141.2:n.12230-103T>G