Canonical Allele Identifier: CA16620932
Gene: KCNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420881
dbSNP Id: rs1064794764

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374263G>A , CM000682.2:g.49374263G>A GRCh38
NC_000020.10:g.47990800G>A , CM000682.1:g.47990800G>A GRCh37
NC_000020.9:g.47424207G>A NCBI36
NG_041781.1:g.113382C>T
NG_041781.2:g.113382C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371741.6:c.1297C>T MANE Select ENSP00000360806.3:p.Arg433Ter
ENST00000635878.1:c.97-74880C>T ENSP00000489908.1:n.97-74880C>T
ENST00000637341.1:n.206+42239G>A
ENST00000371741.5:c.1297C>T ENSP00000360806.3:p.Arg433Ter
ENST00000635465.1:c.1297C>T ENSP00000489193.1:p.Arg433Ter
NM_004975.2:c.1297C>T NP_004966.1:p.Arg433Ter
XM_006723784.2:c.1297C>T XP_006723847.1:p.Arg433Ter
XM_011528799.1:c.1297C>T XP_011527101.1:p.Arg433Ter
NM_004975.3:c.1297C>T NP_004966.1:p.Arg433Ter
XM_006723784.3:c.1297C>T XP_006723847.1:p.Arg433Ter
XM_011528799.2:c.1297C>T XP_011527101.1:p.Arg433Ter
XR_001754659.1:n.156+42239G>A
NM_004975.4:c.1297C>T MANE Select NP_004966.1:p.Arg433Ter