Canonical Allele Identifier: CA1292446

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 294168
• ClinVar RCV Id: RCV000381939 ; RCV002059374
• dbSNP Id: rs10911802
• ExAC: 1:186008849 G / T
• gnomAD v2: 1-186008849-G-T
• gnomAD v3: 1-186039717-G-T
• gnomAD v4: 1-186039717-G-T
• MyVariant Identifiers: chr1:g.186008849G>T (hg19) ; chr1:g.186008849_186008850delinsTT (hg19) ; chr1:g.186039717G>T (hg38) ; chr1:g.186039717_186039718delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186039717G>T , CM000663.2:g.186039717G>T	GRCh38
NC_000001.10:g.186008849G>T , CM000663.1:g.186008849G>T	GRCh37
NC_000001.9:g.184275472G>T	NCBI36
NG_011841.1:g.310167G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.6029-11G>T MANE Select	ENSP00000271588.4:n.6029-11G>T
ENST00000271588.8:c.6029-11G>T	ENSP00000271588.4:n.6029-11G>T
NM_031935.2:c.6029-11G>T	NP_114141.2:n.6029-11G>T
XM_011510037.1:c.6029-11G>T	XP_011508339.1:n.6029-11G>T
XM_011510038.1:c.6029-11G>T	XP_011508340.1:n.6029-11G>T
XM_011510039.1:c.6029-11G>T	XP_011508341.1:n.6029-11G>T
XM_011510040.1:c.6029-11G>T	XP_011508342.1:n.6029-11G>T
XM_011510041.1:c.6029-11G>T	XP_011508343.1:n.6029-11G>T
XM_011510038.3:c.6029-11G>T	XP_011508340.1:n.6029-11G>T
XM_011510041.3:c.6029-11G>T	XP_011508343.1:n.6029-11G>T
XM_017002437.1:c.4052-11G>T	XP_016857926.1:n.4052-11G>T
XM_024450118.1:c.6029-11G>T	XP_024305886.1:n.6029-11G>T
NM_031935.3:c.6029-11G>T MANE Select	NP_114141.2:n.6029-11G>T