Canonical Allele Identifier: CA2368040076
Community Standard Title: NM_004975.4(KCNB1):c.934C= (p.Arg312=)
Gene: KCNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374626G= , CM000682.2:g.49374626G= GRCh38
NC_000020.10:g.47991163G= , CM000682.1:g.47991163G= GRCh37
NC_000020.9:g.47424570G= NCBI36
NG_041781.1:g.113019C=
NG_041781.2:g.113019C=

Transcript Alleles

HGVS Amino-acid Change
NM_004975.4:c.934C= MANE Select NP_004966.1:p.Arg312=
ENST00000371741.6:c.934C= MANE Select ENSP00000360806.3:p.Arg312=
NM_004975.2:c.934C= NP_004966.1:p.Arg312=
NM_004975.3:c.934C= NP_004966.1:p.Arg312=
ENST00000371741.5:c.934C= ENSP00000360806.3:p.Arg312=
ENST00000635465.1:c.934C= ENSP00000489193.1:p.Arg312=
ENST00000635878.1:c.97-75243C= ENSP00000489908.1:n.97-75243C=
ENST00000637341.1:n.206+42602G=
XM_006723784.2:c.934C= XP_006723847.1:p.Arg312=
XM_006723784.3:c.934C= XP_006723847.1:p.Arg312=
XM_011528799.1:c.934C= XP_011527101.1:p.Arg312=
XM_011528799.2:c.934C= XP_011527101.1:p.Arg312=
XR_001754659.1:n.156+42602G=