Canonical Allele Identifier: CA355288430

Gene: KCNMB3

Linked Data

• gnomAD v4: 3-179243027-T-G
• MyVariant Identifiers: chr3:g.178960815T>G (hg19) ; chr3:g.179243027T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243027T>G , CM000665.2:g.179243027T>G	GRCh38
NC_000003.11:g.178960815T>G , CM000665.1:g.178960815T>G	GRCh37
NC_000003.10:g.180443509T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.705A>C MANE Select	ENSP00000376451.2:p.Leu235Phe
ENST00000314235.9:c.717A>C	ENSP00000319370.5:p.Leu239Phe
ENST00000349697.2:c.711A>C	ENSP00000327866.2:p.Leu237Phe
ENST00000392685.6:c.705A>C	ENSP00000376451.2:p.Leu235Phe
ENST00000392686.6:c.651A>C	ENSP00000376452.2:p.Leu217Phe
ENST00000485523.5:c.651A>C	ENSP00000418536.1:p.Leu217Phe
ENST00000486944.2:c.152+106A>C	ENSP00000479162.1:n.152+106A>C
ENST00000497599.5:c.453+1468A>C	ENSP00000417091.1:n.453+1468A>C
NM_001163677.1:c.453+1468A>C	NP_001157149.1:n.453+1468A>C
NM_014407.3:c.717A>C	NP_055222.3:p.Leu239Phe
NM_171828.2:c.711A>C	NP_741979.1:p.Leu237Phe
NM_171829.2:c.651A>C	NP_741980.1:p.Leu217Phe
NM_171830.1:c.705A>C	NP_741981.1:p.Leu235Phe
NR_028135.1:n.1593A>C
NM_001163677.2:c.453+1468A>C	NP_001157149.1:n.453+1468A>C
NM_171828.3:c.711A>C	NP_741979.1:p.Leu237Phe
NM_171829.3:c.651A>C	NP_741980.1:p.Leu217Phe
NR_028135.2:n.1593A>C
NM_171830.2:c.705A>C MANE Select	NP_741981.1:p.Leu235Phe