Canonical Allele Identifier: CA16620933
Gene: KCNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421307
ClinVar RCV Id: RCV000483295
dbSNP Id: rs1064795048
MyVariant Identifiers: chr20:g.47990832T>G (hg19) chr20:g.49374295T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374295T>G , CM000682.2:g.49374295T>G GRCh38
NC_000020.10:g.47990832T>G , CM000682.1:g.47990832T>G GRCh37
NC_000020.9:g.47424239T>G NCBI36
NG_041781.1:g.113350A>C
NG_041781.2:g.113350A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371741.6:c.1265A>C MANE Select ENSP00000360806.3:p.Glu422Ala
ENST00000635878.1:c.97-74912A>C ENSP00000489908.1:n.97-74912A>C
ENST00000637341.1:n.206+42271T>G
ENST00000371741.5:c.1265A>C ENSP00000360806.3:p.Glu422Ala
ENST00000635465.1:c.1265A>C ENSP00000489193.1:p.Glu422Ala
NM_004975.2:c.1265A>C NP_004966.1:p.Glu422Ala
XM_006723784.2:c.1265A>C XP_006723847.1:p.Glu422Ala
XM_011528799.1:c.1265A>C XP_011527101.1:p.Glu422Ala
NM_004975.3:c.1265A>C NP_004966.1:p.Glu422Ala
XM_006723784.3:c.1265A>C XP_006723847.1:p.Glu422Ala
XM_011528799.2:c.1265A>C XP_011527101.1:p.Glu422Ala
XR_001754659.1:n.156+42271T>G
NM_004975.4:c.1265A>C MANE Select NP_004966.1:p.Glu422Ala
Search 100 bp 5'
Search 100 bp 3'