Canonical Allele Identifier: CA998520061
Gene: KIF1B HGNC NCBI

Linked Data

dbSNP Id: rs1638944619
gnomAD v3: 1-10378469-G-C
gnomAD v4: 1-10378469-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10378469G>C , CM000663.2:g.10378469G>C GRCh38
NC_000001.10:g.10438527G>C , CM000663.1:g.10438527G>C GRCh37
NC_000001.9:g.10361114G>C NCBI36
NG_008069.1:g.172764G>C , LRG_252:g.172764G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000676179.1:c.*1882G>C MANE Select ENSP00000502065.1:n.*1882G>C
ENST00000377081.5:c.*67G>C ENSP00000366284.1:n.*67G>C
ENST00000377086.5:c.*1882G>C ENSP00000366290.1:n.*1882G>C
ENST00000620295.2:c.5497G>C ENSP00000478500.1:n.5497G>C
ENST00000622724.3:c.5461G>C ENSP00000480063.1:n.5461G>C
NM_015074.3:c.*1882G>C , LRG_252t1:c.*1882G>C NP_055889.2:n.*1882G>C
NM_001365951.1:c.*1882G>C NP_001352880.1:n.*1882G>C
NM_001365952.1:c.*1882G>C NP_001352881.1:n.*1882G>C
NM_001365951.3:c.*1882G>C MANE Select NP_001352880.1:n.*1882G>C