Canonical Allele Identifier: CA728683752

Gene: HMCN1

Linked Data

• dbSNP Id: rs1292850801
• gnomAD v3: 1-186122881-T-C
• gnomAD v4: 1-186122881-T-C
• MyVariant Identifiers: chr1:g.186092013T>C (hg19) ; chr1:g.186122881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186122881T>C , CM000663.2:g.186122881T>C	GRCh38
NC_000001.10:g.186092013T>C , CM000663.1:g.186092013T>C	GRCh37
NC_000001.9:g.184358636T>C	NCBI36
NG_011841.1:g.393331T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12230-70T>C MANE Select	ENSP00000271588.4:n.12230-70T>C
ENST00000271588.8:c.12230-70T>C	ENSP00000271588.4:n.12230-70T>C
NM_031935.2:c.12230-70T>C	NP_114141.2:n.12230-70T>C
XM_011510037.1:c.11945-70T>C	XP_011508339.1:n.11945-70T>C
XM_011510038.1:c.12230-70T>C	XP_011508340.1:n.12230-70T>C
XM_011510039.1:c.12230-70T>C	XP_011508341.1:n.12230-70T>C
XM_011510038.3:c.12230-70T>C	XP_011508340.1:n.12230-70T>C
XM_017002437.1:c.10253-70T>C	XP_016857926.1:n.10253-70T>C
NM_031935.3:c.12230-70T>C MANE Select	NP_114141.2:n.12230-70T>C