Canonical Allele Identifier: CA2368039965
Community Standard Title: NM_004975.4(KCNB1):c.1297C= (p.Arg433=)
Gene: KCNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374263G= , CM000682.2:g.49374263G= GRCh38
NC_000020.10:g.47990800G= , CM000682.1:g.47990800G= GRCh37
NC_000020.9:g.47424207G= NCBI36
NG_041781.1:g.113382C=
NG_041781.2:g.113382C=

Transcript Alleles

HGVS Amino-acid Change
NM_004975.4:c.1297C= MANE Select NP_004966.1:p.Arg433=
ENST00000371741.6:c.1297C= MANE Select ENSP00000360806.3:p.Arg433=
NM_004975.2:c.1297C= NP_004966.1:p.Arg433=
NM_004975.3:c.1297C= NP_004966.1:p.Arg433=
ENST00000371741.5:c.1297C= ENSP00000360806.3:p.Arg433=
ENST00000635465.1:c.1297C= ENSP00000489193.1:p.Arg433=
ENST00000635878.1:c.97-74880C= ENSP00000489908.1:n.97-74880C=
ENST00000637341.1:n.206+42239G=
XM_006723784.2:c.1297C= XP_006723847.1:p.Arg433=
XM_006723784.3:c.1297C= XP_006723847.1:p.Arg433=
XM_011528799.1:c.1297C= XP_011527101.1:p.Arg433=
XM_011528799.2:c.1297C= XP_011527101.1:p.Arg433=
XR_001754659.1:n.156+42239G=