Canonical Allele Identifier: CA409004115

Gene: KCNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374878G>A , CM000682.2:g.49374878G>A	GRCh38
NC_000020.10:g.47991415G>A , CM000682.1:g.47991415G>A	GRCh37
NC_000020.9:g.47424822G>A	NCBI36
NG_041781.1:g.112767C>T
NG_041781.2:g.112767C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.682C>T MANE Select	NP_004966.1:p.Gln228Ter
ENST00000371741.6:c.682C>T MANE Select	ENSP00000360806.3:p.Gln228Ter
NM_004975.2:c.682C>T	NP_004966.1:p.Gln228Ter
NM_004975.3:c.682C>T	NP_004966.1:p.Gln228Ter
ENST00000371741.5:c.682C>T	ENSP00000360806.3:p.Gln228Ter
ENST00000635210.1:n.258C>T
ENST00000635465.1:c.682C>T	ENSP00000489193.1:p.Gln228Ter
ENST00000635878.1:c.97-75495C>T	ENSP00000489908.1:n.97-75495C>T
ENST00000637341.1:n.206+42854G>A
XM_006723784.2:c.682C>T	XP_006723847.1:p.Gln228Ter
XM_006723784.3:c.682C>T	XP_006723847.1:p.Gln228Ter
XM_011528799.1:c.682C>T	XP_011527101.1:p.Gln228Ter
XM_011528799.2:c.682C>T	XP_011527101.1:p.Gln228Ter
XR_001754659.1:n.156+42854G>A