Canonical Allele Identifier: CA2649561565

Gene: HMCN1

Linked Data

• gnomAD v4: 1-186166800-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186166800T>C , CM000663.2:g.186166800T>C	GRCh38
NC_000001.10:g.186135932T>C , CM000663.1:g.186135932T>C	GRCh37
NC_000001.9:g.184402555T>C	NCBI36
NG_011841.1:g.437250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15440-8T>C MANE Select	ENSP00000271588.4:n.15440-8T>C
ENST00000271588.8:c.15440-8T>C	ENSP00000271588.4:n.15440-8T>C
ENST00000475585.1:n.163-4537T>C
NM_031935.2:c.15440-8T>C	NP_114141.2:n.15440-8T>C
XM_011510037.1:c.15155-8T>C	XP_011508339.1:n.15155-8T>C
XM_011510038.1:c.15440-8T>C	XP_011508340.1:n.15440-8T>C
XM_011510038.3:c.15440-8T>C	XP_011508340.1:n.15440-8T>C
XM_017002437.1:c.13463-8T>C	XP_016857926.1:n.13463-8T>C
NM_031935.3:c.15440-8T>C MANE Select	NP_114141.2:n.15440-8T>C