Canonical Allele Identifier: CA998520054
Gene: KIF1B HGNC NCBI

Linked Data

dbSNP Id: rs1638944543
gnomAD v3: 1-10378455-T-C
gnomAD v4: 1-10378455-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10378455T>C , CM000663.2:g.10378455T>C GRCh38
NC_000001.10:g.10438513T>C , CM000663.1:g.10438513T>C GRCh37
NC_000001.9:g.10361100T>C NCBI36
NG_008069.1:g.172750T>C , LRG_252:g.172750T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000676179.1:c.*1868T>C MANE Select ENSP00000502065.1:n.*1868T>C
ENST00000377081.5:c.*53T>C ENSP00000366284.1:n.*53T>C
ENST00000377086.5:c.*1868T>C ENSP00000366290.1:n.*1868T>C
ENST00000620295.2:c.5483T>C ENSP00000478500.1:n.5483T>C
ENST00000622724.3:c.5447T>C ENSP00000480063.1:n.5447T>C
NM_015074.3:c.*1868T>C , LRG_252t1:c.*1868T>C NP_055889.2:n.*1868T>C
NM_001365951.1:c.*1868T>C NP_001352880.1:n.*1868T>C
NM_001365952.1:c.*1868T>C NP_001352881.1:n.*1868T>C
NM_001365951.3:c.*1868T>C MANE Select NP_001352880.1:n.*1868T>C