Canonical Allele Identifier: CA409016428

Gene: KCNB1

Linked Data

• ClinVar Variation Id: 449693
• ClinVar RCV Id: RCV000520238 ; RCV000688503 ; RCV001003632 ; RCV001249560 ; RCV000782146 ; RCV001255349
• dbSNP Id: rs1555889130
• COSMIC: COSM4099268
• MyVariant Identifiers: chr20:g.47991181G>A (hg19) ; chr20:g.49374644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374644G>A , CM000682.2:g.49374644G>A	GRCh38
NC_000020.10:g.47991181G>A , CM000682.1:g.47991181G>A	GRCh37
NC_000020.9:g.47424588G>A	NCBI36
NG_041781.1:g.113001C>T
NG_041781.2:g.113001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371741.6:c.916C>T MANE Select	ENSP00000360806.3:p.Arg306Cys
ENST00000635878.1:c.97-75261C>T	ENSP00000489908.1:n.97-75261C>T
ENST00000637341.1:n.206+42620G>A
ENST00000371741.5:c.916C>T	ENSP00000360806.3:p.Arg306Cys
ENST00000635465.1:c.916C>T	ENSP00000489193.1:p.Arg306Cys
NM_004975.2:c.916C>T	NP_004966.1:p.Arg306Cys
XM_006723784.2:c.916C>T	XP_006723847.1:p.Arg306Cys
XM_011528799.1:c.916C>T	XP_011527101.1:p.Arg306Cys
NM_004975.3:c.916C>T	NP_004966.1:p.Arg306Cys
XM_006723784.3:c.916C>T	XP_006723847.1:p.Arg306Cys
XM_011528799.2:c.916C>T	XP_011527101.1:p.Arg306Cys
XR_001754659.1:n.156+42620G>A
NM_004975.4:c.916C>T MANE Select	NP_004966.1:p.Arg306Cys