Canonical Allele Identifier: CA437316442

Gene: KCNMB3

Linked Data

• dbSNP Id: rs1560153797
• gnomAD v2: 3-178960869-C-G
• gnomAD v4: 3-179243081-C-G
• MyVariant Identifiers: chr3:g.178960869C>G (hg19) ; chr3:g.178960869_178960871delinsGAG (hg19) ; chr3:g.179243081_179243083delinsGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243081C>G , CM000665.2:g.179243081C>G	GRCh38
NC_000003.11:g.178960869C>G , CM000665.1:g.178960869C>G	GRCh37
NC_000003.10:g.180443563C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.651G>C MANE Select	ENSP00000376451.2:p.Leu217=
ENST00000314235.9:c.663G>C	ENSP00000319370.5:p.Leu221=
ENST00000349697.2:c.657G>C	ENSP00000327866.2:p.Leu219=
ENST00000392685.6:c.651G>C	ENSP00000376451.2:p.Leu217=
ENST00000392686.6:c.597G>C	ENSP00000376452.2:p.Leu199=
ENST00000485523.5:c.597G>C	ENSP00000418536.1:p.Leu199=
ENST00000486944.2:c.152+52G>C	ENSP00000479162.1:n.152+52G>C
ENST00000497599.5:c.453+1414G>C	ENSP00000417091.1:n.453+1414G>C
NM_001163677.1:c.453+1414G>C	NP_001157149.1:n.453+1414G>C
NM_014407.3:c.663G>C	NP_055222.3:p.Leu221=
NM_171828.2:c.657G>C	NP_741979.1:p.Leu219=
NM_171829.2:c.597G>C	NP_741980.1:p.Leu199=
NM_171830.1:c.651G>C	NP_741981.1:p.Leu217=
NR_028135.1:n.1539G>C
NM_001163677.2:c.453+1414G>C	NP_001157149.1:n.453+1414G>C
NM_171828.3:c.657G>C	NP_741979.1:p.Leu219=
NM_171829.3:c.597G>C	NP_741980.1:p.Leu199=
NR_028135.2:n.1539G>C
NM_171830.2:c.651G>C MANE Select	NP_741981.1:p.Leu217=