Canonical Allele Identifier: CA10603360

Gene: KCNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374452A>G , CM000682.2:g.49374452A>G	GRCh38
NC_000020.10:g.47990989A>G , CM000682.1:g.47990989A>G	GRCh37
NC_000020.9:g.47424396A>G	NCBI36
NG_041781.1:g.113193T>C
NG_041781.2:g.113193T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004975.4:c.1108T>C MANE Select	NP_004966.1:p.Trp370Arg
ENST00000371741.6:c.1108T>C MANE Select	ENSP00000360806.3:p.Trp370Arg
NM_004975.2:c.1108T>C	NP_004966.1:p.Trp370Arg
NM_004975.3:c.1108T>C	NP_004966.1:p.Trp370Arg
ENST00000371741.5:c.1108T>C	ENSP00000360806.3:p.Trp370Arg
ENST00000635465.1:c.1108T>C	ENSP00000489193.1:p.Trp370Arg
ENST00000635878.1:c.97-75069T>C	ENSP00000489908.1:n.97-75069T>C
ENST00000637341.1:n.206+42428A>G
XM_006723784.2:c.1108T>C	XP_006723847.1:p.Trp370Arg
XM_006723784.3:c.1108T>C	XP_006723847.1:p.Trp370Arg
XM_011528799.1:c.1108T>C	XP_011527101.1:p.Trp370Arg
XM_011528799.2:c.1108T>C	XP_011527101.1:p.Trp370Arg
XR_001754659.1:n.156+42428A>G