Canonical Allele Identifier: CA10603360
Gene: KCNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280560
ClinVar RCV Id: RCV000289518
dbSNP Id: rs886041743
MyVariant Identifiers: chr20:g.47990989A>G (hg19) chr20:g.49374452A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374452A>G , CM000682.2:g.49374452A>G GRCh38
NC_000020.10:g.47990989A>G , CM000682.1:g.47990989A>G GRCh37
NC_000020.9:g.47424396A>G NCBI36
NG_041781.1:g.113193T>C
NG_041781.2:g.113193T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371741.6:c.1108T>C MANE Select ENSP00000360806.3:p.Trp370Arg
ENST00000635878.1:c.97-75069T>C ENSP00000489908.1:n.97-75069T>C
ENST00000637341.1:n.206+42428A>G
ENST00000371741.5:c.1108T>C ENSP00000360806.3:p.Trp370Arg
ENST00000635465.1:c.1108T>C ENSP00000489193.1:p.Trp370Arg
NM_004975.2:c.1108T>C NP_004966.1:p.Trp370Arg
XM_006723784.2:c.1108T>C XP_006723847.1:p.Trp370Arg
XM_011528799.1:c.1108T>C XP_011527101.1:p.Trp370Arg
NM_004975.3:c.1108T>C NP_004966.1:p.Trp370Arg
XM_006723784.3:c.1108T>C XP_006723847.1:p.Trp370Arg
XM_011528799.2:c.1108T>C XP_011527101.1:p.Trp370Arg
XR_001754659.1:n.156+42428A>G
NM_004975.4:c.1108T>C MANE Select NP_004966.1:p.Trp370Arg
Search 100 bp 5'
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