Canonical Allele Identifier: CA2711105

Gene: KCNMB3

Linked Data

• ClinVar Variation Id: 403000
• ClinVar RCV Id: RCV000455016
• dbSNP Id: rs143962239
• ExAC: 3:178960766 CT / C
• gnomAD v2: 3-178960766-CT-C
• gnomAD v3: 3-179242978-CT-C
• gnomAD v4: 3-179242978-CT-C
• COSMIC: COSM5713101 ; COSM5713102 ; COSM5713103
• MyVariant Identifiers: chr3:g.178960767del (hg19) ; chr3:g.179242980del (hg38) ; chr3:g.179242979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179242982del , CM000665.2:g.179242982del	GRCh38
NC_000003.11:g.178960770del , CM000665.1:g.178960770del	GRCh37
NC_000003.10:g.180443464del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000392685.7:c.753del MANE Select	ENSP00000376451.2:p.Val252TyrfsTer4
ENST00000314235.9:c.765del	ENSP00000319370.5:p.Val256TyrfsTer4
ENST00000349697.2:c.759del	ENSP00000327866.2:p.Val254TyrfsTer4
ENST00000392685.6:c.753del	ENSP00000376451.2:p.Val252TyrfsTer4
ENST00000392686.6:c.699del	ENSP00000376452.2:p.Val234TyrfsTer4
ENST00000485523.5:c.699del	ENSP00000418536.1:p.Val234TyrfsTer4
ENST00000486944.2:c.152+154del	ENSP00000479162.1:n.152+154del
ENST00000497599.5:c.453+1516del	ENSP00000417091.1:n.453+1516del
NM_001163677.1:c.453+1516del	NP_001157149.1:n.453+1516del
NM_014407.3:c.765del	NP_055222.3:p.Val256TyrfsTer4
NM_171828.2:c.759del	NP_741979.1:p.Val254TyrfsTer4
NM_171829.2:c.699del	NP_741980.1:p.Val234TyrfsTer4
NM_171830.1:c.753del	NP_741981.1:p.Val252TyrfsTer4
NR_028135.1:n.1641del
NM_001163677.2:c.453+1516del	NP_001157149.1:n.453+1516del
NM_171828.3:c.759del	NP_741979.1:p.Val254TyrfsTer4
NM_171829.3:c.699del	NP_741980.1:p.Val234TyrfsTer4
NR_028135.2:n.1641del
NM_171830.2:c.753del MANE Select	NP_741981.1:p.Val252TyrfsTer4