Canonical Allele Identifier: CA409015075

Gene: KCNB1

Linked Data

• COSMIC: COSM6270447
• MyVariant Identifiers: chr20:g.47990951G>T (hg19) ; chr20:g.49374414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374414G>T , CM000682.2:g.49374414G>T	GRCh38
NC_000020.10:g.47990951G>T , CM000682.1:g.47990951G>T	GRCh37
NC_000020.9:g.47424358G>T	NCBI36
NG_041781.1:g.113231C>A
NG_041781.2:g.113231C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371741.6:c.1146C>A MANE Select	ENSP00000360806.3:p.Asp382Glu
ENST00000635878.1:c.97-75031C>A	ENSP00000489908.1:n.97-75031C>A
ENST00000637341.1:n.206+42390G>T
ENST00000371741.5:c.1146C>A	ENSP00000360806.3:p.Asp382Glu
ENST00000635465.1:c.1146C>A	ENSP00000489193.1:p.Asp382Glu
NM_004975.2:c.1146C>A	NP_004966.1:p.Asp382Glu
XM_006723784.2:c.1146C>A	XP_006723847.1:p.Asp382Glu
XM_011528799.1:c.1146C>A	XP_011527101.1:p.Asp382Glu
NM_004975.3:c.1146C>A	NP_004966.1:p.Asp382Glu
XM_006723784.3:c.1146C>A	XP_006723847.1:p.Asp382Glu
XM_011528799.2:c.1146C>A	XP_011527101.1:p.Asp382Glu
XR_001754659.1:n.156+42390G>T
NM_004975.4:c.1146C>A MANE Select	NP_004966.1:p.Asp382Glu