Canonical Allele Identifier: CA355288505
Gene: KCNMB3 HGNC NCBI

Linked Data

dbSNP Id: rs1175511160

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179243064A>T , CM000665.2:g.179243064A>T GRCh38
NC_000003.11:g.178960852A>T , CM000665.1:g.178960852A>T GRCh37
NC_000003.10:g.180443546A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392685.7:c.668T>A MANE Select ENSP00000376451.2:p.Ile223Asn
ENST00000314235.9:c.680T>A ENSP00000319370.5:p.Ile227Asn
ENST00000349697.2:c.674T>A ENSP00000327866.2:p.Ile225Asn
ENST00000392685.6:c.668T>A ENSP00000376451.2:p.Ile223Asn
ENST00000392686.6:c.614T>A ENSP00000376452.2:p.Ile205Asn
ENST00000485523.5:c.614T>A ENSP00000418536.1:p.Ile205Asn
ENST00000486944.2:c.152+69T>A ENSP00000479162.1:n.152+69T>A
ENST00000497599.5:c.453+1431T>A ENSP00000417091.1:n.453+1431T>A
NM_001163677.1:c.453+1431T>A NP_001157149.1:n.453+1431T>A
NM_014407.3:c.680T>A NP_055222.3:p.Ile227Asn
NM_171828.2:c.674T>A NP_741979.1:p.Ile225Asn
NM_171829.2:c.614T>A NP_741980.1:p.Ile205Asn
NM_171830.1:c.668T>A NP_741981.1:p.Ile223Asn
NR_028135.1:n.1556T>A
NM_001163677.2:c.453+1431T>A NP_001157149.1:n.453+1431T>A
NM_171828.3:c.674T>A NP_741979.1:p.Ile225Asn
NM_171829.3:c.614T>A NP_741980.1:p.Ile205Asn
NR_028135.2:n.1556T>A
NM_171830.2:c.668T>A MANE Select NP_741981.1:p.Ile223Asn