Canonical Allele Identifier: CA355288478

Gene: KCNMB3

Linked Data

• MyVariant Identifiers: chr3:g.178960840A>T (hg19) ; chr3:g.179243052A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243052A>T , CM000665.2:g.179243052A>T	GRCh38
NC_000003.11:g.178960840A>T , CM000665.1:g.178960840A>T	GRCh37
NC_000003.10:g.180443534A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.680T>A MANE Select	ENSP00000376451.2:p.Val227Glu
ENST00000314235.9:c.692T>A	ENSP00000319370.5:p.Val231Glu
ENST00000349697.2:c.686T>A	ENSP00000327866.2:p.Val229Glu
ENST00000392685.6:c.680T>A	ENSP00000376451.2:p.Val227Glu
ENST00000392686.6:c.626T>A	ENSP00000376452.2:p.Val209Glu
ENST00000485523.5:c.626T>A	ENSP00000418536.1:p.Val209Glu
ENST00000486944.2:c.152+81T>A	ENSP00000479162.1:n.152+81T>A
ENST00000497599.5:c.453+1443T>A	ENSP00000417091.1:n.453+1443T>A
NM_001163677.1:c.453+1443T>A	NP_001157149.1:n.453+1443T>A
NM_014407.3:c.692T>A	NP_055222.3:p.Val231Glu
NM_171828.2:c.686T>A	NP_741979.1:p.Val229Glu
NM_171829.2:c.626T>A	NP_741980.1:p.Val209Glu
NM_171830.1:c.680T>A	NP_741981.1:p.Val227Glu
NR_028135.1:n.1568T>A
NM_001163677.2:c.453+1443T>A	NP_001157149.1:n.453+1443T>A
NM_171828.3:c.686T>A	NP_741979.1:p.Val229Glu
NM_171829.3:c.626T>A	NP_741980.1:p.Val209Glu
NR_028135.2:n.1568T>A
NM_171830.2:c.680T>A MANE Select	NP_741981.1:p.Val227Glu