Canonical Allele Identifier: CA2711113

Gene: KCNMB3

Linked Data

• dbSNP Id: rs770238169
• ExAC: 3:178960813 A / C
• gnomAD v2: 3-178960813-A-C
• gnomAD v4: 3-179243025-A-C
• MyVariant Identifiers: chr3:g.178960813A>C (hg19) ; chr3:g.179243025A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243025A>C , CM000665.2:g.179243025A>C	GRCh38
NC_000003.11:g.178960813A>C , CM000665.1:g.178960813A>C	GRCh37
NC_000003.10:g.180443507A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.707T>G MANE Select	ENSP00000376451.2:p.Leu236Arg
ENST00000314235.9:c.719T>G	ENSP00000319370.5:p.Leu240Arg
ENST00000349697.2:c.713T>G	ENSP00000327866.2:p.Leu238Arg
ENST00000392685.6:c.707T>G	ENSP00000376451.2:p.Leu236Arg
ENST00000392686.6:c.653T>G	ENSP00000376452.2:p.Leu218Arg
ENST00000485523.5:c.653T>G	ENSP00000418536.1:p.Leu218Arg
ENST00000486944.2:c.152+108T>G	ENSP00000479162.1:n.152+108T>G
ENST00000497599.5:c.453+1470T>G	ENSP00000417091.1:n.453+1470T>G
NM_001163677.1:c.453+1470T>G	NP_001157149.1:n.453+1470T>G
NM_014407.3:c.719T>G	NP_055222.3:p.Leu240Arg
NM_171828.2:c.713T>G	NP_741979.1:p.Leu238Arg
NM_171829.2:c.653T>G	NP_741980.1:p.Leu218Arg
NM_171830.1:c.707T>G	NP_741981.1:p.Leu236Arg
NR_028135.1:n.1595T>G
NM_001163677.2:c.453+1470T>G	NP_001157149.1:n.453+1470T>G
NM_171828.3:c.713T>G	NP_741979.1:p.Leu238Arg
NM_171829.3:c.653T>G	NP_741980.1:p.Leu218Arg
NR_028135.2:n.1595T>G
NM_171830.2:c.707T>G MANE Select	NP_741981.1:p.Leu236Arg