Canonical Allele Identifier: CA547913152

Gene: KCNMB3

Linked Data

• dbSNP Id: rs1374510327
• gnomAD v2: 3-178960869-CAG-C
• gnomAD v3: 3-179243081-CAG-C
• gnomAD v4: 3-179243081-CAG-C
• MyVariant Identifiers: chr3:g.178960870_178960871del (hg19) ; chr3:g.179243082_179243083del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243084_179243085del , CM000665.2:g.179243084_179243085del	GRCh38
NC_000003.11:g.178960872_178960873del , CM000665.1:g.178960872_178960873del	GRCh37
NC_000003.10:g.180443566_180443567del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.649_650del MANE Select	ENSP00000376451.2:p.Leu217AlafsTer21
ENST00000314235.9:c.661_662del	ENSP00000319370.5:p.Leu221AlafsTer21
ENST00000349697.2:c.655_656del	ENSP00000327866.2:p.Leu219AlafsTer21
ENST00000392685.6:c.649_650del	ENSP00000376451.2:p.Leu217AlafsTer21
ENST00000392686.6:c.595_596del	ENSP00000376452.2:p.Leu199AlafsTer21
ENST00000485523.5:c.595_596del	ENSP00000418536.1:p.Leu199AlafsTer21
ENST00000486944.2:c.152+50_152+51del	ENSP00000479162.1:n.152+50_152+51del
ENST00000497599.5:c.453+1412_453+1413del	ENSP00000417091.1:n.453+1412_453+1413del
NM_001163677.1:c.453+1412_453+1413del	NP_001157149.1:n.453+1412_453+1413del
NM_014407.3:c.661_662del	NP_055222.3:p.Leu221AlafsTer21
NM_171828.2:c.655_656del	NP_741979.1:p.Leu219AlafsTer21
NM_171829.2:c.595_596del	NP_741980.1:p.Leu199AlafsTer21
NM_171830.1:c.649_650del	NP_741981.1:p.Leu217AlafsTer21
NR_028135.1:n.1537_1538del
NM_001163677.2:c.453+1412_453+1413del	NP_001157149.1:n.453+1412_453+1413del
NM_171828.3:c.655_656del	NP_741979.1:p.Leu219AlafsTer21
NM_171829.3:c.595_596del	NP_741980.1:p.Leu199AlafsTer21
NR_028135.2:n.1537_1538del
NM_171830.2:c.649_650del MANE Select	NP_741981.1:p.Leu217AlafsTer21