Canonical Allele Identifier: CA1291588
Gene: HMCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294126
dbSNP Id: rs34460141

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185987516A>T , CM000663.2:g.185987516A>T GRCh38
NC_000001.10:g.185956648A>T , CM000663.1:g.185956648A>T GRCh37
NC_000001.9:g.184223271A>T NCBI36
NG_011841.1:g.257966A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.3020A>T MANE Select ENSP00000271588.4:p.Asn1007Ile
ENST00000271588.8:c.3020A>T ENSP00000271588.4:p.Asn1007Ile
ENST00000485744.5:n.1271A>T
NM_031935.2:c.3020A>T NP_114141.2:p.Asn1007Ile
XM_011510037.1:c.3020A>T XP_011508339.1:p.Asn1007Ile
XM_011510038.1:c.3020A>T XP_011508340.1:p.Asn1007Ile
XM_011510039.1:c.3020A>T XP_011508341.1:p.Asn1007Ile
XM_011510040.1:c.3020A>T XP_011508342.1:p.Asn1007Ile
XM_011510041.1:c.3020A>T XP_011508343.1:p.Asn1007Ile
XM_011510038.3:c.3020A>T XP_011508340.1:p.Asn1007Ile
XM_011510041.3:c.3020A>T XP_011508343.1:p.Asn1007Ile
XM_017002437.1:c.1043A>T XP_016857926.1:p.Asn348Ile
XM_024450118.1:c.3020A>T XP_024305886.1:p.Asn1007Ile
NM_031935.3:c.3020A>T MANE Select NP_114141.2:p.Asn1007Ile