Canonical Allele Identifier: CA437316395
Gene: KCNMB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.178960835A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179243047A>G , CM000665.2:g.179243047A>G GRCh38
NC_000003.11:g.178960835A>G , CM000665.1:g.178960835A>G GRCh37
NC_000003.10:g.180443529A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392685.7:c.685T>C MANE Select ENSP00000376451.2:p.Leu229=
ENST00000314235.9:c.697T>C ENSP00000319370.5:p.Leu233=
ENST00000349697.2:c.691T>C ENSP00000327866.2:p.Leu231=
ENST00000392685.6:c.685T>C ENSP00000376451.2:p.Leu229=
ENST00000392686.6:c.631T>C ENSP00000376452.2:p.Leu211=
ENST00000485523.5:c.631T>C ENSP00000418536.1:p.Leu211=
ENST00000486944.2:c.152+86T>C ENSP00000479162.1:n.152+86T>C
ENST00000497599.5:c.453+1448T>C ENSP00000417091.1:n.453+1448T>C
NM_001163677.1:c.453+1448T>C NP_001157149.1:n.453+1448T>C
NM_014407.3:c.697T>C NP_055222.3:p.Leu233=
NM_171828.2:c.691T>C NP_741979.1:p.Leu231=
NM_171829.2:c.631T>C NP_741980.1:p.Leu211=
NM_171830.1:c.685T>C NP_741981.1:p.Leu229=
NR_028135.1:n.1573T>C
NM_001163677.2:c.453+1448T>C NP_001157149.1:n.453+1448T>C
NM_171828.3:c.691T>C NP_741979.1:p.Leu231=
NM_171829.3:c.631T>C NP_741980.1:p.Leu211=
NR_028135.2:n.1573T>C
NM_171830.2:c.685T>C MANE Select NP_741981.1:p.Leu229=