Canonical Allele Identifier: CA409015815

Gene: KCNB1

Linked Data

• MyVariant Identifiers: chr20:g.47991091G>C (hg19) ; chr20:g.49374554G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374554G>C , CM000682.2:g.49374554G>C	GRCh38
NC_000020.10:g.47991091G>C , CM000682.1:g.47991091G>C	GRCh37
NC_000020.9:g.47424498G>C	NCBI36
NG_041781.1:g.113091C>G
NG_041781.2:g.113091C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371741.6:c.1006C>G MANE Select	ENSP00000360806.3:p.Leu336Val
ENST00000635878.1:c.97-75171C>G	ENSP00000489908.1:n.97-75171C>G
ENST00000637341.1:n.206+42530G>C
ENST00000371741.5:c.1006C>G	ENSP00000360806.3:p.Leu336Val
ENST00000635465.1:c.1006C>G	ENSP00000489193.1:p.Leu336Val
NM_004975.2:c.1006C>G	NP_004966.1:p.Leu336Val
XM_006723784.2:c.1006C>G	XP_006723847.1:p.Leu336Val
XM_011528799.1:c.1006C>G	XP_011527101.1:p.Leu336Val
NM_004975.3:c.1006C>G	NP_004966.1:p.Leu336Val
XM_006723784.3:c.1006C>G	XP_006723847.1:p.Leu336Val
XM_011528799.2:c.1006C>G	XP_011527101.1:p.Leu336Val
XR_001754659.1:n.156+42530G>C
NM_004975.4:c.1006C>G MANE Select	NP_004966.1:p.Leu336Val