Canonical Allele Identifier: CA437316358
Gene: KCNMB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.178960773A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179242985A>C , CM000665.2:g.179242985A>C GRCh38
NC_000003.11:g.178960773A>C , CM000665.1:g.178960773A>C GRCh37
NC_000003.10:g.180443467A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392685.7:c.747T>G MANE Select ENSP00000376451.2:p.Gly249=
ENST00000314235.9:c.759T>G ENSP00000319370.5:p.Gly253=
ENST00000349697.2:c.753T>G ENSP00000327866.2:p.Gly251=
ENST00000392685.6:c.747T>G ENSP00000376451.2:p.Gly249=
ENST00000392686.6:c.693T>G ENSP00000376452.2:p.Gly231=
ENST00000485523.5:c.693T>G ENSP00000418536.1:p.Gly231=
ENST00000486944.2:c.152+148T>G ENSP00000479162.1:n.152+148T>G
ENST00000497599.5:c.453+1510T>G ENSP00000417091.1:n.453+1510T>G
NM_001163677.1:c.453+1510T>G NP_001157149.1:n.453+1510T>G
NM_014407.3:c.759T>G NP_055222.3:p.Gly253=
NM_171828.2:c.753T>G NP_741979.1:p.Gly251=
NM_171829.2:c.693T>G NP_741980.1:p.Gly231=
NM_171830.1:c.747T>G NP_741981.1:p.Gly249=
NR_028135.1:n.1635T>G
NM_001163677.2:c.453+1510T>G NP_001157149.1:n.453+1510T>G
NM_171828.3:c.753T>G NP_741979.1:p.Gly251=
NM_171829.3:c.693T>G NP_741980.1:p.Gly231=
NR_028135.2:n.1635T>G
NM_171830.2:c.747T>G MANE Select NP_741981.1:p.Gly249=