Canonical Allele Identifier: CA355288504

Gene: KCNMB3

Linked Data

• MyVariant Identifiers: chr3:g.178960852A>G (hg19) ; chr3:g.179243064A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.668T>C MANE Select	ENSP00000376451.2:p.Ile223Thr
ENST00000314235.9:c.680T>C	ENSP00000319370.5:p.Ile227Thr
ENST00000349697.2:c.674T>C	ENSP00000327866.2:p.Ile225Thr
ENST00000392685.6:c.668T>C	ENSP00000376451.2:p.Ile223Thr
ENST00000392686.6:c.614T>C	ENSP00000376452.2:p.Ile205Thr
ENST00000485523.5:c.614T>C	ENSP00000418536.1:p.Ile205Thr
ENST00000486944.2:c.152+69T>C	ENSP00000479162.1:n.152+69T>C
ENST00000497599.5:c.453+1431T>C	ENSP00000417091.1:n.453+1431T>C
NM_001163677.1:c.453+1431T>C	NP_001157149.1:n.453+1431T>C
NM_014407.3:c.680T>C	NP_055222.3:p.Ile227Thr
NM_171828.2:c.674T>C	NP_741979.1:p.Ile225Thr
NM_171829.2:c.614T>C	NP_741980.1:p.Ile205Thr
NM_171830.1:c.668T>C	NP_741981.1:p.Ile223Thr
NR_028135.1:n.1556T>C
NM_001163677.2:c.453+1431T>C	NP_001157149.1:n.453+1431T>C
NM_171828.3:c.674T>C	NP_741979.1:p.Ile225Thr
NM_171829.3:c.614T>C	NP_741980.1:p.Ile205Thr
NR_028135.2:n.1556T>C
NM_171830.2:c.668T>C MANE Select	NP_741981.1:p.Ile223Thr