Canonical Allele Identifier: CA10607297
Gene: KIF1B HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.10378855C>T
GRCh37 chr1:g.10438913C>T
gnomAD v2:
1:10438913 C / T
gnomAD v3:
1:10378855 C / T
gnomAD v4:
chr1-10378855-C-T
Joint Max Group AF 0.00536402 (NFE)
Genomes Max Group AF 0.00530576 (NFE)
Exomes Max Group AF 0.00511287 (NFE)
ClinVar RCV:
RCV000352426
RCV003221889
ClinVar Variation:
291620
dbSNP:
574858597
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10378855C>T , CM000663.2:g.10378855C>T GRCh38
NC_000001.10:g.10438913C>T , CM000663.1:g.10438913C>T GRCh37
NC_000001.9:g.10361500C>T NCBI36
NG_008069.1:g.173150C>T , LRG_252:g.173150C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000676179.1:c.*2268C>T MANE Select ENSP00000502065.1:n.*2268C>T
ENST00000377081.5:c.*453C>T ENSP00000366284.1:n.*453C>T
ENST00000377086.5:c.*2268C>T ENSP00000366290.1:n.*2268C>T
ENST00000620295.2:c.5883C>T ENSP00000478500.1:n.5883C>T
ENST00000622724.3:c.5847C>T ENSP00000480063.1:n.5847C>T
NM_015074.3:c.*2268C>T , LRG_252t1:c.*2268C>T NP_055889.2:n.*2268C>T
NM_001365951.1:c.*2268C>T NP_001352880.1:n.*2268C>T
NM_001365952.1:c.*2268C>T NP_001352881.1:n.*2268C>T
NM_001365951.3:c.*2268C>T MANE Select NP_001352880.1:n.*2268C>T
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