Canonical Allele Identifier: CA1010093656

Gene: HMCN1

Linked Data

• dbSNP Id: rs1652432312
• gnomAD v3: 1-186174432-T-G
• gnomAD v4: 1-186174432-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174432T>G , CM000663.2:g.186174432T>G	GRCh38
NC_000001.10:g.186143564T>G , CM000663.1:g.186143564T>G	GRCh37
NC_000001.9:g.184410187T>G	NCBI36
NG_011841.1:g.444882T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15815-82T>G MANE Select	ENSP00000271588.4:n.15815-82T>G
ENST00000271588.8:c.15815-82T>G	ENSP00000271588.4:n.15815-82T>G
ENST00000414277.1:c.191-82T>G	ENSP00000406205.1:n.191-82T>G
NM_031935.2:c.15815-82T>G	NP_114141.2:n.15815-82T>G
XM_011510037.1:c.15530-82T>G	XP_011508339.1:n.15530-82T>G
XM_011510038.1:c.15815-82T>G	XP_011508340.1:n.15815-82T>G
XM_011510038.3:c.15815-82T>G	XP_011508340.1:n.15815-82T>G
XM_017002437.1:c.13838-82T>G	XP_016857926.1:n.13838-82T>G
NM_031935.3:c.15815-82T>G MANE Select	NP_114141.2:n.15815-82T>G