Canonical Allele Identifier: CA2368040073
Community Standard Title: NM_004975.4(KCNB1):c.938A= (p.His313=)
Gene: KCNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374622T= , CM000682.2:g.49374622T= GRCh38
NC_000020.10:g.47991159T= , CM000682.1:g.47991159T= GRCh37
NC_000020.9:g.47424566T= NCBI36
NG_041781.1:g.113023A=
NG_041781.2:g.113023A=

Transcript Alleles

HGVS Amino-acid Change
NM_004975.4:c.938A= MANE Select NP_004966.1:p.His313=
ENST00000371741.6:c.938A= MANE Select ENSP00000360806.3:p.His313=
NM_004975.2:c.938A= NP_004966.1:p.His313=
NM_004975.3:c.938A= NP_004966.1:p.His313=
ENST00000371741.5:c.938A= ENSP00000360806.3:p.His313=
ENST00000635465.1:c.938A= ENSP00000489193.1:p.His313=
ENST00000635878.1:c.97-75239A= ENSP00000489908.1:n.97-75239A=
ENST00000637341.1:n.206+42598T=
XM_006723784.2:c.938A= XP_006723847.1:p.His313=
XM_006723784.3:c.938A= XP_006723847.1:p.His313=
XM_011528799.1:c.938A= XP_011527101.1:p.His313=
XM_011528799.2:c.938A= XP_011527101.1:p.His313=
XR_001754659.1:n.156+42598T=