Canonical Allele Identifier: CA355288333

Gene: KCNMB3

Linked Data

• gnomAD v4: 3-179242983-C-T
• MyVariant Identifiers: chr3:g.178960771C>T (hg19) ; chr3:g.179242983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179242983C>T , CM000665.2:g.179242983C>T	GRCh38
NC_000003.11:g.178960771C>T , CM000665.1:g.178960771C>T	GRCh37
NC_000003.10:g.180443465C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.749G>A MANE Select	ENSP00000376451.2:p.Gly250Glu
ENST00000314235.9:c.761G>A	ENSP00000319370.5:p.Gly254Glu
ENST00000349697.2:c.755G>A	ENSP00000327866.2:p.Gly252Glu
ENST00000392685.6:c.749G>A	ENSP00000376451.2:p.Gly250Glu
ENST00000392686.6:c.695G>A	ENSP00000376452.2:p.Gly232Glu
ENST00000485523.5:c.695G>A	ENSP00000418536.1:p.Gly232Glu
ENST00000486944.2:c.152+150G>A	ENSP00000479162.1:n.152+150G>A
ENST00000497599.5:c.453+1512G>A	ENSP00000417091.1:n.453+1512G>A
NM_001163677.1:c.453+1512G>A	NP_001157149.1:n.453+1512G>A
NM_014407.3:c.761G>A	NP_055222.3:p.Gly254Glu
NM_171828.2:c.755G>A	NP_741979.1:p.Gly252Glu
NM_171829.2:c.695G>A	NP_741980.1:p.Gly232Glu
NM_171830.1:c.749G>A	NP_741981.1:p.Gly250Glu
NR_028135.1:n.1637G>A
NM_001163677.2:c.453+1512G>A	NP_001157149.1:n.453+1512G>A
NM_171828.3:c.755G>A	NP_741979.1:p.Gly252Glu
NM_171829.3:c.695G>A	NP_741980.1:p.Gly232Glu
NR_028135.2:n.1637G>A
NM_171830.2:c.749G>A MANE Select	NP_741981.1:p.Gly250Glu