Canonical Allele Identifier: CA343935004

Gene: HMCN1

Linked Data

• gnomAD v4: 1-186174522-G-C
• MyVariant Identifiers: chr1:g.186143654G>C (hg19) ; chr1:g.186174522G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174522G>C , CM000663.2:g.186174522G>C	GRCh38
NC_000001.10:g.186143654G>C , CM000663.1:g.186143654G>C	GRCh37
NC_000001.9:g.184410277G>C	NCBI36
NG_011841.1:g.444972G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15823G>C MANE Select	ENSP00000271588.4:p.Glu5275Gln
ENST00000271588.8:c.15823G>C	ENSP00000271588.4:p.Glu5275Gln
ENST00000414277.1:c.199G>C	ENSP00000406205.1:p.Glu67Gln
NM_031935.2:c.15823G>C	NP_114141.2:p.Glu5275Gln
XM_011510037.1:c.15538G>C	XP_011508339.1:p.Glu5180Gln
XM_011510038.1:c.15823G>C	XP_011508340.1:p.Glu5275Gln
XM_011510038.3:c.15823G>C	XP_011508340.1:p.Glu5275Gln
XM_017002437.1:c.13846G>C	XP_016857926.1:p.Glu4616Gln
NM_031935.3:c.15823G>C MANE Select	NP_114141.2:p.Glu5275Gln