Canonical Allele Identifier: CA10608507

Gene: HMCN1

Linked Data

• dbSNP Id: rs886045668
• gnomAD v3: 1-185993230-T-C
• gnomAD v4: 1-185993230-T-C
• MyVariant Identifiers: chr1:g.185962362T>C (hg19) ; chr1:g.185993230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185993230T>C , CM000663.2:g.185993230T>C	GRCh38
NC_000001.10:g.185962362T>C , CM000663.1:g.185962362T>C	GRCh37
NC_000001.9:g.184228985T>C	NCBI36
NG_011841.1:g.263680T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000271588.9:c.3426T>C MANE Select	ENSP00000271588.4:p.Thr1142=
ENST00000271588.8:c.3426T>C	ENSP00000271588.4:p.Thr1142=
ENST00000485744.5:n.1677T>C
NM_031935.2:c.3426T>C	NP_114141.2:p.Thr1142=
XM_011510037.1:c.3426T>C	XP_011508339.1:p.Thr1142=
XM_011510038.1:c.3426T>C	XP_011508340.1:p.Thr1142=
XM_011510039.1:c.3426T>C	XP_011508341.1:p.Thr1142=
XM_011510040.1:c.3426T>C	XP_011508342.1:p.Thr1142=
XM_011510041.1:c.3426T>C	XP_011508343.1:p.Thr1142=
XM_011510038.3:c.3426T>C	XP_011508340.1:p.Thr1142=
XM_011510041.3:c.3426T>C	XP_011508343.1:p.Thr1142=
XM_017002437.1:c.1449T>C	XP_016857926.1:p.Thr483=
XM_024450118.1:c.3426T>C	XP_024305886.1:p.Thr1142=
NM_031935.3:c.3426T>C MANE Select	NP_114141.2:p.Thr1142=