Canonical Allele Identifier: CA1423682063

Gene: KCNMB3

Linked Data

• dbSNP Id: rs1725509114
• gnomAD v4: 3-179243036-G-GTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243037_179243040dup , CM000665.2:g.179243037_179243040dup	GRCh38
NC_000003.11:g.178960825_178960828dup , CM000665.1:g.178960825_178960828dup	GRCh37
NC_000003.10:g.180443519_180443522dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.692_695dup MANE Select	ENSP00000376451.2:p.His232GlnfsTer8
ENST00000314235.9:c.704_707dup	ENSP00000319370.5:p.His236GlnfsTer8
ENST00000349697.2:c.698_701dup	ENSP00000327866.2:p.His234GlnfsTer8
ENST00000392685.6:c.692_695dup	ENSP00000376451.2:p.His232GlnfsTer8
ENST00000392686.6:c.638_641dup	ENSP00000376452.2:p.His214GlnfsTer8
ENST00000485523.5:c.638_641dup	ENSP00000418536.1:p.His214GlnfsTer8
ENST00000486944.2:c.152+93_152+96dup	ENSP00000479162.1:n.152+93_152+96dup
ENST00000497599.5:c.453+1455_453+1458dup	ENSP00000417091.1:n.453+1455_453+1458dup
NM_001163677.1:c.453+1455_453+1458dup	NP_001157149.1:n.453+1455_453+1458dup
NM_014407.3:c.704_707dup	NP_055222.3:p.His236GlnfsTer8
NM_171828.2:c.698_701dup	NP_741979.1:p.His234GlnfsTer8
NM_171829.2:c.638_641dup	NP_741980.1:p.His214GlnfsTer8
NM_171830.1:c.692_695dup	NP_741981.1:p.His232GlnfsTer8
NR_028135.1:n.1580_1583dup
NM_001163677.2:c.453+1455_453+1458dup	NP_001157149.1:n.453+1455_453+1458dup
NM_171828.3:c.698_701dup	NP_741979.1:p.His234GlnfsTer8
NM_171829.3:c.638_641dup	NP_741980.1:p.His214GlnfsTer8
NR_028135.2:n.1580_1583dup
NM_171830.2:c.692_695dup MANE Select	NP_741981.1:p.His232GlnfsTer8