Canonical Allele Identifier: CA2711122

Gene: KCNMB3

Linked Data

• dbSNP Id: rs750168035
• ExAC: 3:178960862 C / A
• gnomAD v2: 3-178960862-C-A
• gnomAD v3: 3-179243074-C-A
• gnomAD v4: 3-179243074-C-A
• MyVariant Identifiers: chr3:g.178960862C>A (hg19) ; chr3:g.179243074C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243074C>A , CM000665.2:g.179243074C>A	GRCh38
NC_000003.11:g.178960862C>A , CM000665.1:g.178960862C>A	GRCh37
NC_000003.10:g.180443556C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.658G>T MANE Select	ENSP00000376451.2:p.Gly220Cys
ENST00000314235.9:c.670G>T	ENSP00000319370.5:p.Gly224Cys
ENST00000349697.2:c.664G>T	ENSP00000327866.2:p.Gly222Cys
ENST00000392685.6:c.658G>T	ENSP00000376451.2:p.Gly220Cys
ENST00000392686.6:c.604G>T	ENSP00000376452.2:p.Gly202Cys
ENST00000485523.5:c.604G>T	ENSP00000418536.1:p.Gly202Cys
ENST00000486944.2:c.152+59G>T	ENSP00000479162.1:n.152+59G>T
ENST00000497599.5:c.453+1421G>T	ENSP00000417091.1:n.453+1421G>T
NM_001163677.1:c.453+1421G>T	NP_001157149.1:n.453+1421G>T
NM_014407.3:c.670G>T	NP_055222.3:p.Gly224Cys
NM_171828.2:c.664G>T	NP_741979.1:p.Gly222Cys
NM_171829.2:c.604G>T	NP_741980.1:p.Gly202Cys
NM_171830.1:c.658G>T	NP_741981.1:p.Gly220Cys
NR_028135.1:n.1546G>T
NM_001163677.2:c.453+1421G>T	NP_001157149.1:n.453+1421G>T
NM_171828.3:c.664G>T	NP_741979.1:p.Gly222Cys
NM_171829.3:c.604G>T	NP_741980.1:p.Gly202Cys
NR_028135.2:n.1546G>T
NM_171830.2:c.658G>T MANE Select	NP_741981.1:p.Gly220Cys