Canonical Allele Identifier: CA2368048503
Community Standard Title: NM_004975.4(KCNB1):c.568-19479C=
Gene: KCNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49394471G= , CM000682.2:g.49394471G= GRCh38
NC_000020.10:g.48011008G= , CM000682.1:g.48011008G= GRCh37
NC_000020.9:g.47444415G= NCBI36
NG_041781.1:g.93174C=
NG_041781.2:g.93174C=

Transcript Alleles

HGVS Amino-acid Change
NM_004975.4:c.568-19479C= MANE Select NP_004966.1:n.568-19479C=
ENST00000371741.6:c.568-19479C= MANE Select ENSP00000360806.3:n.568-19479C=
NM_004975.2:c.568-19479C= NP_004966.1:n.568-19479C=
NM_004975.3:c.568-19479C= NP_004966.1:n.568-19479C=
ENST00000371741.5:c.568-19479C= ENSP00000360806.3:n.568-19479C=
ENST00000635465.1:c.568-19479C= ENSP00000489193.1:n.568-19479C=
ENST00000635878.1:c.96+87443C= ENSP00000489908.1:n.96+87443C=
ENST00000637341.1:n.207-28621G=
XM_006723784.2:c.568-19479C= XP_006723847.1:n.568-19479C=
XM_006723784.3:c.568-19479C= XP_006723847.1:n.568-19479C=
XM_011528799.1:c.568-19479C= XP_011527101.1:n.568-19479C=
XM_011528799.2:c.568-19479C= XP_011527101.1:n.568-19479C=
XR_001754659.1:n.157-32181G=