Canonical Allele Identifier: CA511033345

Gene: KCNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49373967G>A , CM000682.2:g.49373967G>A	GRCh38
NC_000020.10:g.47990504G>A , CM000682.1:g.47990504G>A	GRCh37
NC_000020.9:g.47423911G>A	NCBI36
NG_041781.1:g.113678C>T
NG_041781.2:g.113678C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.1593C>T MANE Select	NP_004966.1:p.Asp531=
ENST00000371741.6:c.1593C>T MANE Select	ENSP00000360806.3:p.Asp531=
NM_004975.2:c.1593C>T	NP_004966.1:p.Asp531=
NM_004975.3:c.1593C>T	NP_004966.1:p.Asp531=
ENST00000371741.5:c.1593C>T	ENSP00000360806.3:p.Asp531=
ENST00000635465.1:c.1593C>T	ENSP00000489193.1:p.Asp531=
ENST00000635878.1:c.97-74584C>T	ENSP00000489908.1:n.97-74584C>T
ENST00000637341.1:n.206+41943G>A
XM_006723784.2:c.1593C>T	XP_006723847.1:p.Asp531=
XM_006723784.3:c.1593C>T	XP_006723847.1:p.Asp531=
XM_011528799.1:c.1593C>T	XP_011527101.1:p.Asp531=
XM_011528799.2:c.1593C>T	XP_011527101.1:p.Asp531=
XR_001754659.1:n.156+41943G>A