Canonical Allele Identifier: CA9903161

Gene: KCNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374894C>T , CM000682.2:g.49374894C>T	GRCh38
NC_000020.10:g.47991431C>T , CM000682.1:g.47991431C>T	GRCh37
NC_000020.9:g.47424838C>T	NCBI36
NG_041781.1:g.112751G>A
NG_041781.2:g.112751G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.666G>A MANE Select	NP_004966.1:p.Gln222=
ENST00000371741.6:c.666G>A MANE Select	ENSP00000360806.3:p.Gln222=
NM_004975.2:c.666G>A	NP_004966.1:p.Gln222=
NM_004975.3:c.666G>A	NP_004966.1:p.Gln222=
ENST00000371741.5:c.666G>A	ENSP00000360806.3:p.Gln222=
ENST00000635210.1:n.242G>A
ENST00000635465.1:c.666G>A	ENSP00000489193.1:p.Gln222=
ENST00000635878.1:c.97-75511G>A	ENSP00000489908.1:n.97-75511G>A
ENST00000637341.1:n.206+42870C>T
XM_006723784.2:c.666G>A	XP_006723847.1:p.Gln222=
XM_006723784.3:c.666G>A	XP_006723847.1:p.Gln222=
XM_011528799.1:c.666G>A	XP_011527101.1:p.Gln222=
XM_011528799.2:c.666G>A	XP_011527101.1:p.Gln222=
XR_001754659.1:n.156+42870C>T