Canonical Allele Identifier: CA3237956280
Community Standard Title: NM_004975.4(KCNB1):c.820T= (p.Tyr274=)
Gene: KCNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374740A= , CM000682.2:g.49374740A= GRCh38
NC_000020.10:g.47991277A= , CM000682.1:g.47991277A= GRCh37
NC_000020.9:g.47424684A= NCBI36
NG_041781.1:g.112905T=
NG_041781.2:g.112905T=

Transcript Alleles

HGVS Amino-acid Change
NM_004975.4:c.820T= MANE Select NP_004966.1:p.Tyr274=
ENST00000371741.6:c.820T= MANE Select ENSP00000360806.3:p.Tyr274=
NM_004975.2:c.820T= NP_004966.1:p.Tyr274=
NM_004975.3:c.820T= NP_004966.1:p.Tyr274=
ENST00000371741.5:c.820T= ENSP00000360806.3:p.Tyr274=
ENST00000635465.1:c.820T= ENSP00000489193.1:p.Tyr274=
ENST00000635878.1:c.97-75357T= ENSP00000489908.1:n.97-75357T=
ENST00000637341.1:n.206+42716A=
XM_006723784.2:c.820T= XP_006723847.1:p.Tyr274=
XM_006723784.3:c.820T= XP_006723847.1:p.Tyr274=
XM_011528799.1:c.820T= XP_011527101.1:p.Tyr274=
XM_011528799.2:c.820T= XP_011527101.1:p.Tyr274=
XR_001754659.1:n.156+42716A=