Canonical Allele Identifier: CA1291699

Gene: HMCN1

Linked Data

• dbSNP Id: rs777285155
• ExAC: 1:185962279 C / T
• gnomAD v4: 1-185993147-C-T
• MyVariant Identifiers: chr1:g.185962279C>T (hg19) ; chr1:g.185993147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185993147C>T , CM000663.2:g.185993147C>T	GRCh38
NC_000001.10:g.185962279C>T , CM000663.1:g.185962279C>T	GRCh37
NC_000001.9:g.184228902C>T	NCBI36
NG_011841.1:g.263597C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271588.9:c.3378-35C>T MANE Select	ENSP00000271588.4:n.3378-35C>T
ENST00000271588.8:c.3378-35C>T	ENSP00000271588.4:n.3378-35C>T
ENST00000485744.5:n.1629-35C>T
NM_031935.2:c.3378-35C>T	NP_114141.2:n.3378-35C>T
XM_011510037.1:c.3378-35C>T	XP_011508339.1:n.3378-35C>T
XM_011510038.1:c.3378-35C>T	XP_011508340.1:n.3378-35C>T
XM_011510039.1:c.3378-35C>T	XP_011508341.1:n.3378-35C>T
XM_011510040.1:c.3378-35C>T	XP_011508342.1:n.3378-35C>T
XM_011510041.1:c.3378-35C>T	XP_011508343.1:n.3378-35C>T
XM_011510038.3:c.3378-35C>T	XP_011508340.1:n.3378-35C>T
XM_011510041.3:c.3378-35C>T	XP_011508343.1:n.3378-35C>T
XM_017002437.1:c.1401-35C>T	XP_016857926.1:n.1401-35C>T
XM_024450118.1:c.3378-35C>T	XP_024305886.1:n.3378-35C>T
NM_031935.3:c.3378-35C>T MANE Select	NP_114141.2:n.3378-35C>T