Canonical Allele Identifier: CA1292116

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 294155
• ClinVar RCV Id: RCV000308140 ; RCV002059370
• dbSNP Id: rs6665753
• ExAC: 1:185984517 T / C
• gnomAD v2: 1-185984517-T-C
• gnomAD v3: 1-186015385-T-C
• gnomAD v4: 1-186015385-T-C
• MyVariant Identifiers: chr1:g.185984517T>C (hg19) ; chr1:g.186015385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186015385T>C , CM000663.2:g.186015385T>C	GRCh38
NC_000001.10:g.185984517T>C , CM000663.1:g.185984517T>C	GRCh37
NC_000001.9:g.184251140T>C	NCBI36
NG_011841.1:g.285835T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.4857T>C MANE Select	ENSP00000271588.4:p.His1619=
ENST00000271588.8:c.4857T>C	ENSP00000271588.4:p.His1619=
NM_031935.2:c.4857T>C	NP_114141.2:p.His1619=
XM_011510037.1:c.4857T>C	XP_011508339.1:p.His1619=
XM_011510038.1:c.4857T>C	XP_011508340.1:p.His1619=
XM_011510039.1:c.4857T>C	XP_011508341.1:p.His1619=
XM_011510040.1:c.4857T>C	XP_011508342.1:p.His1619=
XM_011510041.1:c.4857T>C	XP_011508343.1:p.His1619=
XM_011510038.3:c.4857T>C	XP_011508340.1:p.His1619=
XM_011510041.3:c.4857T>C	XP_011508343.1:p.His1619=
XM_017002437.1:c.2880T>C	XP_016857926.1:p.His960=
XM_024450118.1:c.4857T>C	XP_024305886.1:p.His1619=
NM_031935.3:c.4857T>C MANE Select	NP_114141.2:p.His1619=