Canonical Allele Identifier: CA13279982
Gene: KIF5B HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.32020077A>G
GRCh37 chr10:g.32309005A>G
gnomAD v2:
10:32309005 A / G
gnomAD v3:
10:32020077 A / G
gnomAD v4:
chr10-32020077-A-G
Joint Max Group AF 0.63782506 (EAS)
Genomes Max Group AF 0.59115714 (EAS)
Exomes Max Group AF 0.64294885 (EAS)
dbSNP:
1775715
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.32020077A>G , CM000672.2:g.32020077A>G GRCh38
NC_000010.10:g.32309005A>G , CM000672.1:g.32309005A>G GRCh37
NC_000010.9:g.32349011A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302418.5:c.2205-118T>C MANE Select ENSP00000307078.4:n.2205-118T>C
ENST00000302418.4:c.2205-118T>C ENSP00000307078.4:n.2205-118T>C
ENST00000493889.1:n.74-118T>C
NM_004521.2:c.2205-118T>C NP_004512.1:n.2205-118T>C
XM_017016224.2:c.1923-118T>C XP_016871713.1:n.1923-118T>C
NM_004521.3:c.2205-118T>C MANE Select NP_004512.1:n.2205-118T>C
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