Canonical Allele Identifier: CA1292003
Gene: HMCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294145
dbSNP Id: rs58293393

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186003808C>T , CM000663.2:g.186003808C>T GRCh38
NC_000001.10:g.185972940C>T , CM000663.1:g.185972940C>T GRCh37
NC_000001.9:g.184239563C>T NCBI36
NG_011841.1:g.274258C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.4439C>T MANE Select ENSP00000271588.4:p.Thr1480Ile
ENST00000271588.8:c.4439C>T ENSP00000271588.4:p.Thr1480Ile
NM_031935.2:c.4439C>T NP_114141.2:p.Thr1480Ile
XM_011510037.1:c.4439C>T XP_011508339.1:p.Thr1480Ile
XM_011510038.1:c.4439C>T XP_011508340.1:p.Thr1480Ile
XM_011510039.1:c.4439C>T XP_011508341.1:p.Thr1480Ile
XM_011510040.1:c.4439C>T XP_011508342.1:p.Thr1480Ile
XM_011510041.1:c.4439C>T XP_011508343.1:p.Thr1480Ile
XM_011510038.3:c.4439C>T XP_011508340.1:p.Thr1480Ile
XM_011510041.3:c.4439C>T XP_011508343.1:p.Thr1480Ile
XM_017002437.1:c.2462C>T XP_016857926.1:p.Thr821Ile
XM_024450118.1:c.4439C>T XP_024305886.1:p.Thr1480Ile
NM_031935.3:c.4439C>T MANE Select NP_114141.2:p.Thr1480Ile