Canonical Allele Identifier: CA16607998
Gene: KCNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392897
ClinVar RCV Id: RCV000441478
dbSNP Id: rs1057524688
MyVariant Identifiers: chr20:g.47991040C>T (hg19) chr20:g.49374503C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374503C>T , CM000682.2:g.49374503C>T GRCh38
NC_000020.10:g.47991040C>T , CM000682.1:g.47991040C>T GRCh37
NC_000020.9:g.47424447C>T NCBI36
NG_041781.1:g.113142G>A
NG_041781.2:g.113142G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371741.6:c.1057G>A MANE Select ENSP00000360806.3:p.Glu353Lys
ENST00000635878.1:c.97-75120G>A ENSP00000489908.1:n.97-75120G>A
ENST00000637341.1:n.206+42479C>T
ENST00000371741.5:c.1057G>A ENSP00000360806.3:p.Glu353Lys
ENST00000635465.1:c.1057G>A ENSP00000489193.1:p.Glu353Lys
NM_004975.2:c.1057G>A NP_004966.1:p.Glu353Lys
XM_006723784.2:c.1057G>A XP_006723847.1:p.Glu353Lys
XM_011528799.1:c.1057G>A XP_011527101.1:p.Glu353Lys
NM_004975.3:c.1057G>A NP_004966.1:p.Glu353Lys
XM_006723784.3:c.1057G>A XP_006723847.1:p.Glu353Lys
XM_011528799.2:c.1057G>A XP_011527101.1:p.Glu353Lys
XR_001754659.1:n.156+42479C>T
NM_004975.4:c.1057G>A MANE Select NP_004966.1:p.Glu353Lys
Search 100 bp 5'
Search 100 bp 3'