Canonical Allele Identifier: CA229189

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 100881
• ClinVar RCV Id: RCV000087243
• dbSNP Id: rs483352758
• ExAC: 1:186010259 C / T
• gnomAD v2: 1-186010259-C-T
• gnomAD v4: 1-186041127-C-T
• COSMIC: COSM254726
• MyVariant Identifiers: chr1:g.186010259C>T (hg19) ; chr1:g.186041127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186041127C>T , CM000663.2:g.186041127C>T	GRCh38
NC_000001.10:g.186010259C>T , CM000663.1:g.186010259C>T	GRCh37
NC_000001.9:g.184276882C>T	NCBI36
NG_011841.1:g.311577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.6295C>T MANE Select	ENSP00000271588.4:p.Arg2099Ter
ENST00000271588.8:c.6295C>T	ENSP00000271588.4:p.Arg2099Ter
NM_031935.2:c.6295C>T	NP_114141.2:p.Arg2099Ter
XM_011510037.1:c.6295C>T	XP_011508339.1:p.Arg2099Ter
XM_011510038.1:c.6295C>T	XP_011508340.1:p.Arg2099Ter
XM_011510039.1:c.6295C>T	XP_011508341.1:p.Arg2099Ter
XM_011510040.1:c.6295C>T	XP_011508342.1:p.Arg2099Ter
XM_011510041.1:c.6295C>T	XP_011508343.1:p.Arg2099Ter
XM_011510038.3:c.6295C>T	XP_011508340.1:p.Arg2099Ter
XM_011510041.3:c.6295C>T	XP_011508343.1:p.Arg2099Ter
XM_017002437.1:c.4318C>T	XP_016857926.1:p.Arg1440Ter
XM_024450118.1:c.6295C>T	XP_024305886.1:p.Arg2099Ter
NM_031935.3:c.6295C>T MANE Select	NP_114141.2:p.Arg2099Ter