Canonical Allele Identifier: CA728691414

Gene: HMCN1

Linked Data

• dbSNP Id: rs1319501543
• gnomAD v3: 1-186174437-C-T
• gnomAD v4: 1-186174437-C-T
• MyVariant Identifiers: chr1:g.186143569C>T (hg19) ; chr1:g.186174437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174437C>T , CM000663.2:g.186174437C>T	GRCh38
NC_000001.10:g.186143569C>T , CM000663.1:g.186143569C>T	GRCh37
NC_000001.9:g.184410192C>T	NCBI36
NG_011841.1:g.444887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15815-77C>T MANE Select	ENSP00000271588.4:n.15815-77C>T
ENST00000271588.8:c.15815-77C>T	ENSP00000271588.4:n.15815-77C>T
ENST00000414277.1:c.191-77C>T	ENSP00000406205.1:n.191-77C>T
NM_031935.2:c.15815-77C>T	NP_114141.2:n.15815-77C>T
XM_011510037.1:c.15530-77C>T	XP_011508339.1:n.15530-77C>T
XM_011510038.1:c.15815-77C>T	XP_011508340.1:n.15815-77C>T
XM_011510038.3:c.15815-77C>T	XP_011508340.1:n.15815-77C>T
XM_017002437.1:c.13838-77C>T	XP_016857926.1:n.13838-77C>T
NM_031935.3:c.15815-77C>T MANE Select	NP_114141.2:n.15815-77C>T