Canonical Allele Identifier: CA2368039974
Community Standard Title: NM_004975.4(KCNB1):c.1265A= (p.Glu422=)
Gene: KCNB1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004975.4:c.1265A= MANE Select NP_004966.1:p.Glu422=
ENST00000371741.6:c.1265A= MANE Select ENSP00000360806.3:p.Glu422=
NM_004975.2:c.1265A= NP_004966.1:p.Glu422=
NM_004975.3:c.1265A= NP_004966.1:p.Glu422=
ENST00000371741.5:c.1265A= ENSP00000360806.3:p.Glu422=
ENST00000635465.1:c.1265A= ENSP00000489193.1:p.Glu422=
ENST00000635878.1:c.97-74912A= ENSP00000489908.1:n.97-74912A=
ENST00000637341.1:n.206+42271T=
XM_006723784.2:c.1265A= XP_006723847.1:p.Glu422=
XM_006723784.3:c.1265A= XP_006723847.1:p.Glu422=
XM_011528799.1:c.1265A= XP_011527101.1:p.Glu422=
XM_011528799.2:c.1265A= XP_011527101.1:p.Glu422=
XR_001754659.1:n.156+42271T=