Canonical Allele Identifier: CA437316390
Gene: KCNMB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.178960827T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179243039T>C , CM000665.2:g.179243039T>C GRCh38
NC_000003.11:g.178960827T>C , CM000665.1:g.178960827T>C GRCh37
NC_000003.10:g.180443521T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392685.7:c.693A>G MANE Select ENSP00000376451.2:p.Gln231=
ENST00000314235.9:c.705A>G ENSP00000319370.5:p.Gln235=
ENST00000349697.2:c.699A>G ENSP00000327866.2:p.Gln233=
ENST00000392685.6:c.693A>G ENSP00000376451.2:p.Gln231=
ENST00000392686.6:c.639A>G ENSP00000376452.2:p.Gln213=
ENST00000485523.5:c.639A>G ENSP00000418536.1:p.Gln213=
ENST00000486944.2:c.152+94A>G ENSP00000479162.1:n.152+94A>G
ENST00000497599.5:c.453+1456A>G ENSP00000417091.1:n.453+1456A>G
NM_001163677.1:c.453+1456A>G NP_001157149.1:n.453+1456A>G
NM_014407.3:c.705A>G NP_055222.3:p.Gln235=
NM_171828.2:c.699A>G NP_741979.1:p.Gln233=
NM_171829.2:c.639A>G NP_741980.1:p.Gln213=
NM_171830.1:c.693A>G NP_741981.1:p.Gln231=
NR_028135.1:n.1581A>G
NM_001163677.2:c.453+1456A>G NP_001157149.1:n.453+1456A>G
NM_171828.3:c.699A>G NP_741979.1:p.Gln233=
NM_171829.3:c.639A>G NP_741980.1:p.Gln213=
NR_028135.2:n.1581A>G
NM_171830.2:c.693A>G MANE Select NP_741981.1:p.Gln231=