Canonical Allele Identifier: CA355288510

Gene: KCNMB3

Linked Data

• dbSNP Id: rs1232106210
• gnomAD v2: 3-178960855-A-G
• gnomAD v4: 3-179243067-A-G
• MyVariant Identifiers: chr3:g.178960855A>G (hg19) ; chr3:g.179243067A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243067A>G , CM000665.2:g.179243067A>G	GRCh38
NC_000003.11:g.178960855A>G , CM000665.1:g.178960855A>G	GRCh37
NC_000003.10:g.180443549A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.665T>C MANE Select	ENSP00000376451.2:p.Leu222Pro
ENST00000314235.9:c.677T>C	ENSP00000319370.5:p.Leu226Pro
ENST00000349697.2:c.671T>C	ENSP00000327866.2:p.Leu224Pro
ENST00000392685.6:c.665T>C	ENSP00000376451.2:p.Leu222Pro
ENST00000392686.6:c.611T>C	ENSP00000376452.2:p.Leu204Pro
ENST00000485523.5:c.611T>C	ENSP00000418536.1:p.Leu204Pro
ENST00000486944.2:c.152+66T>C	ENSP00000479162.1:n.152+66T>C
ENST00000497599.5:c.453+1428T>C	ENSP00000417091.1:n.453+1428T>C
NM_001163677.1:c.453+1428T>C	NP_001157149.1:n.453+1428T>C
NM_014407.3:c.677T>C	NP_055222.3:p.Leu226Pro
NM_171828.2:c.671T>C	NP_741979.1:p.Leu224Pro
NM_171829.2:c.611T>C	NP_741980.1:p.Leu204Pro
NM_171830.1:c.665T>C	NP_741981.1:p.Leu222Pro
NR_028135.1:n.1553T>C
NM_001163677.2:c.453+1428T>C	NP_001157149.1:n.453+1428T>C
NM_171828.3:c.671T>C	NP_741979.1:p.Leu224Pro
NM_171829.3:c.611T>C	NP_741980.1:p.Leu204Pro
NR_028135.2:n.1553T>C
NM_171830.2:c.665T>C MANE Select	NP_741981.1:p.Leu222Pro