Canonical Allele Identifier: CA437316388

Gene: KCNMB3

Linked Data

• gnomAD v4: 3-179243033-C-T
• MyVariant Identifiers: chr3:g.178960821C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243033C>T , CM000665.2:g.179243033C>T	GRCh38
NC_000003.11:g.178960821C>T , CM000665.1:g.178960821C>T	GRCh37
NC_000003.10:g.180443515C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.699G>A MANE Select	ENSP00000376451.2:p.Leu233=
ENST00000314235.9:c.711G>A	ENSP00000319370.5:p.Leu237=
ENST00000349697.2:c.705G>A	ENSP00000327866.2:p.Leu235=
ENST00000392685.6:c.699G>A	ENSP00000376451.2:p.Leu233=
ENST00000392686.6:c.645G>A	ENSP00000376452.2:p.Leu215=
ENST00000485523.5:c.645G>A	ENSP00000418536.1:p.Leu215=
ENST00000486944.2:c.152+100G>A	ENSP00000479162.1:n.152+100G>A
ENST00000497599.5:c.453+1462G>A	ENSP00000417091.1:n.453+1462G>A
NM_001163677.1:c.453+1462G>A	NP_001157149.1:n.453+1462G>A
NM_014407.3:c.711G>A	NP_055222.3:p.Leu237=
NM_171828.2:c.705G>A	NP_741979.1:p.Leu235=
NM_171829.2:c.645G>A	NP_741980.1:p.Leu215=
NM_171830.1:c.699G>A	NP_741981.1:p.Leu233=
NR_028135.1:n.1587G>A
NM_001163677.2:c.453+1462G>A	NP_001157149.1:n.453+1462G>A
NM_171828.3:c.705G>A	NP_741979.1:p.Leu235=
NM_171829.3:c.645G>A	NP_741980.1:p.Leu215=
NR_028135.2:n.1587G>A
NM_171830.2:c.699G>A MANE Select	NP_741981.1:p.Leu233=