Canonical Allele Identifier: CA355288397

Gene: KCNMB3

Linked Data

• dbSNP Id: rs1725507852
• gnomAD v4: 3-179243013-T-C
• MyVariant Identifiers: chr3:g.178960801T>C (hg19) ; chr3:g.179243013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243013T>C , CM000665.2:g.179243013T>C	GRCh38
NC_000003.11:g.178960801T>C , CM000665.1:g.178960801T>C	GRCh37
NC_000003.10:g.180443495T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.719A>G MANE Select	ENSP00000376451.2:p.Tyr240Cys
ENST00000314235.9:c.731A>G	ENSP00000319370.5:p.Tyr244Cys
ENST00000349697.2:c.725A>G	ENSP00000327866.2:p.Tyr242Cys
ENST00000392685.6:c.719A>G	ENSP00000376451.2:p.Tyr240Cys
ENST00000392686.6:c.665A>G	ENSP00000376452.2:p.Tyr222Cys
ENST00000485523.5:c.665A>G	ENSP00000418536.1:p.Tyr222Cys
ENST00000486944.2:c.152+120A>G	ENSP00000479162.1:n.152+120A>G
ENST00000497599.5:c.453+1482A>G	ENSP00000417091.1:n.453+1482A>G
NM_001163677.1:c.453+1482A>G	NP_001157149.1:n.453+1482A>G
NM_014407.3:c.731A>G	NP_055222.3:p.Tyr244Cys
NM_171828.2:c.725A>G	NP_741979.1:p.Tyr242Cys
NM_171829.2:c.665A>G	NP_741980.1:p.Tyr222Cys
NM_171830.1:c.719A>G	NP_741981.1:p.Tyr240Cys
NR_028135.1:n.1607A>G
NM_001163677.2:c.453+1482A>G	NP_001157149.1:n.453+1482A>G
NM_171828.3:c.725A>G	NP_741979.1:p.Tyr242Cys
NM_171829.3:c.665A>G	NP_741980.1:p.Tyr222Cys
NR_028135.2:n.1607A>G
NM_171830.2:c.719A>G MANE Select	NP_741981.1:p.Tyr240Cys