Canonical Allele Identifier: CA10607363
Gene: KIF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 291628
ClinVar RCV Id: RCV000343134
dbSNP Id: rs144047666
gnomAD v2: 1-10439385-C-A
gnomAD v3: 1-10379327-C-A
gnomAD v4: 1-10379327-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10379327C>A , CM000663.2:g.10379327C>A GRCh38
NC_000001.10:g.10439385C>A , CM000663.1:g.10439385C>A GRCh37
NC_000001.9:g.10361972C>A NCBI36
NG_008069.1:g.173622C>A , LRG_252:g.173622C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000676179.1:c.*2740C>A MANE Select ENSP00000502065.1:n.*2740C>A
ENST00000377081.5:c.*925C>A ENSP00000366284.1:n.*925C>A
ENST00000377086.5:c.*2740C>A ENSP00000366290.1:n.*2740C>A
ENST00000620295.2:c.6355C>A ENSP00000478500.1:n.6355C>A
ENST00000622724.3:c.6319C>A ENSP00000480063.1:n.6319C>A
NM_015074.3:c.*2740C>A , LRG_252t1:c.*2740C>A NP_055889.2:n.*2740C>A
NM_001365951.1:c.*2740C>A NP_001352880.1:n.*2740C>A
NM_001365952.1:c.*2740C>A NP_001352881.1:n.*2740C>A
NM_001365951.3:c.*2740C>A MANE Select NP_001352880.1:n.*2740C>A