Canonical Allele Identifier: CA343878334

Gene: HMCN1

Linked Data

• dbSNP Id: rs2102075354
• gnomAD v4: 1-186003720-C-G
• COSMIC: COSM1295595
• MyVariant Identifiers: chr1:g.185972852C>G (hg19) ; chr1:g.186003720C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186003720C>G , CM000663.2:g.186003720C>G	GRCh38
NC_000001.10:g.185972852C>G , CM000663.1:g.185972852C>G	GRCh37
NC_000001.9:g.184239475C>G	NCBI36
NG_011841.1:g.274170C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.4351C>G MANE Select	ENSP00000271588.4:p.Pro1451Ala
ENST00000271588.8:c.4351C>G	ENSP00000271588.4:p.Pro1451Ala
NM_031935.2:c.4351C>G	NP_114141.2:p.Pro1451Ala
XM_011510037.1:c.4351C>G	XP_011508339.1:p.Pro1451Ala
XM_011510038.1:c.4351C>G	XP_011508340.1:p.Pro1451Ala
XM_011510039.1:c.4351C>G	XP_011508341.1:p.Pro1451Ala
XM_011510040.1:c.4351C>G	XP_011508342.1:p.Pro1451Ala
XM_011510041.1:c.4351C>G	XP_011508343.1:p.Pro1451Ala
XM_011510038.3:c.4351C>G	XP_011508340.1:p.Pro1451Ala
XM_011510041.3:c.4351C>G	XP_011508343.1:p.Pro1451Ala
XM_017002437.1:c.2374C>G	XP_016857926.1:p.Pro792Ala
XM_024450118.1:c.4351C>G	XP_024305886.1:p.Pro1451Ala
NM_031935.3:c.4351C>G MANE Select	NP_114141.2:p.Pro1451Ala