Canonical Allele Identifier: CA409015834

Gene: KCNB1

Linked Data

• MyVariant Identifiers: chr20:g.47991094T>G (hg19) ; chr20:g.49374557T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374557T>G , CM000682.2:g.49374557T>G	GRCh38
NC_000020.10:g.47991094T>G , CM000682.1:g.47991094T>G	GRCh37
NC_000020.9:g.47424501T>G	NCBI36
NG_041781.1:g.113088A>C
NG_041781.2:g.113088A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371741.6:c.1003A>C MANE Select	ENSP00000360806.3:p.Ile335Leu
ENST00000635878.1:c.97-75174A>C	ENSP00000489908.1:n.97-75174A>C
ENST00000637341.1:n.206+42533T>G
ENST00000371741.5:c.1003A>C	ENSP00000360806.3:p.Ile335Leu
ENST00000635465.1:c.1003A>C	ENSP00000489193.1:p.Ile335Leu
NM_004975.2:c.1003A>C	NP_004966.1:p.Ile335Leu
XM_006723784.2:c.1003A>C	XP_006723847.1:p.Ile335Leu
XM_011528799.1:c.1003A>C	XP_011527101.1:p.Ile335Leu
NM_004975.3:c.1003A>C	NP_004966.1:p.Ile335Leu
XM_006723784.3:c.1003A>C	XP_006723847.1:p.Ile335Leu
XM_011528799.2:c.1003A>C	XP_011527101.1:p.Ile335Leu
XR_001754659.1:n.156+42533T>G
NM_004975.4:c.1003A>C MANE Select	NP_004966.1:p.Ile335Leu