Canonical Allele Identifier: CA511033442
Gene: KCNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.47991190G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374653G>T , CM000682.2:g.49374653G>T GRCh38
NC_000020.10:g.47991190G>T , CM000682.1:g.47991190G>T GRCh37
NC_000020.9:g.47424597G>T NCBI36
NG_041781.1:g.112992C>A
NG_041781.2:g.112992C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371741.6:c.907C>A MANE Select ENSP00000360806.3:p.Arg303=
ENST00000635878.1:c.97-75270C>A ENSP00000489908.1:n.97-75270C>A
ENST00000637341.1:n.206+42629G>T
ENST00000371741.5:c.907C>A ENSP00000360806.3:p.Arg303=
ENST00000635465.1:c.907C>A ENSP00000489193.1:p.Arg303=
NM_004975.2:c.907C>A NP_004966.1:p.Arg303=
XM_006723784.2:c.907C>A XP_006723847.1:p.Arg303=
XM_011528799.1:c.907C>A XP_011527101.1:p.Arg303=
NM_004975.3:c.907C>A NP_004966.1:p.Arg303=
XM_006723784.3:c.907C>A XP_006723847.1:p.Arg303=
XM_011528799.2:c.907C>A XP_011527101.1:p.Arg303=
XR_001754659.1:n.156+42629G>T
NM_004975.4:c.907C>A MANE Select NP_004966.1:p.Arg303=