Canonical Allele Identifier: CA2573969830

Gene: HMCN1

Linked Data

• gnomAD v4: 1-186174448-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174448C>A , CM000663.2:g.186174448C>A	GRCh38
NC_000001.10:g.186143580C>A , CM000663.1:g.186143580C>A	GRCh37
NC_000001.9:g.184410203C>A	NCBI36
NG_011841.1:g.444898C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15815-66C>A MANE Select	ENSP00000271588.4:n.15815-66C>A
ENST00000271588.8:c.15815-66C>A	ENSP00000271588.4:n.15815-66C>A
ENST00000414277.1:c.191-66C>A	ENSP00000406205.1:n.191-66C>A
NM_031935.2:c.15815-66C>A	NP_114141.2:n.15815-66C>A
XM_011510037.1:c.15530-66C>A	XP_011508339.1:n.15530-66C>A
XM_011510038.1:c.15815-66C>A	XP_011508340.1:n.15815-66C>A
XM_011510038.3:c.15815-66C>A	XP_011508340.1:n.15815-66C>A
XM_017002437.1:c.13838-66C>A	XP_016857926.1:n.13838-66C>A
NM_031935.3:c.15815-66C>A MANE Select	NP_114141.2:n.15815-66C>A