Canonical Allele Identifier: CA14759718
Gene: KCNB1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49372368A>G , CM000682.2:g.49372368A>G GRCh38
NC_000020.10:g.47988905A>G , CM000682.1:g.47988905A>G GRCh37
NC_000020.9:g.47422312A>G NCBI36
NG_041781.1:g.115277T>C
NG_041781.2:g.115277T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371741.6:c.*615T>C MANE Select ENSP00000360806.3:n.*615T>C
ENST00000635878.1:c.97-72985T>C ENSP00000489908.1:n.97-72985T>C
ENST00000636838.1:n.583T>C
ENST00000637131.1:c.736T>C
ENST00000637341.1:n.206+40344A>G
ENST00000371741.5:c.*615T>C ENSP00000360806.3:n.*615T>C
ENST00000635465.1:c.*615T>C ENSP00000489193.1:n.*615T>C
NM_004975.2:c.*615T>C NP_004966.1:n.*615T>C
XM_006723784.2:c.*615T>C XP_006723847.1:n.*615T>C
XM_011528799.1:c.*615T>C XP_011527101.1:n.*615T>C
NM_004975.3:c.*615T>C NP_004966.1:n.*615T>C
XM_006723784.3:c.*615T>C XP_006723847.1:n.*615T>C
XM_011528799.2:c.*615T>C XP_011527101.1:n.*615T>C
XR_001754659.1:n.156+40344A>G
NM_004975.4:c.*615T>C MANE Select NP_004966.1:n.*615T>C