Canonical Allele Identifier: CA14379585
Gene: KIF18B HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44932518G>A
GRCh37 chr17:g.43009886G>A
gnomAD v2:
17:43009886 G / A
gnomAD v3:
17:44932518 G / A
gnomAD v4:
chr17-44932518-G-A
Joint Max Group AF 0.48310763 (AFR)
Genomes Max Group AF 0.48369067 (AFR)
Exomes Max Group AF 0.47404379 (AFR)
dbSNP:
744281
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44932518G>A , CM000679.2:g.44932518G>A GRCh38
NC_000017.10:g.43009886G>A , CM000679.1:g.43009886G>A GRCh37
NC_000017.9:g.40365412G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000593135.6:c.1238+155C>T MANE Select ENSP00000465992.1:n.1238+155C>T
ENST00000585687.1:n.385C>T
ENST00000587309.5:c.1238+155C>T ENSP00000465377.1:n.1238+155C>T
ENST00000590129.1:c.1265+155C>T ENSP00000465501.1:n.1265+155C>T
ENST00000593135.5:c.1238+155C>T ENSP00000465992.1:n.1238+155C>T
NM_001264573.1:c.1238+155C>T NP_001251503.1:n.1238+155C>T
NM_001265577.1:c.1238+155C>T NP_001252506.1:n.1238+155C>T
XM_011524385.1:c.1265+155C>T XP_011522687.1:n.1265+155C>T
XM_011524386.1:c.1238+155C>T XP_011522688.1:n.1238+155C>T
XM_011524387.1:c.1265+155C>T XP_011522689.1:n.1265+155C>T
XM_011524388.1:c.1265+155C>T XP_011522690.1:n.1265+155C>T
XM_011524389.1:c.1265+155C>T XP_011522691.1:n.1265+155C>T
XM_011524390.1:c.1160+155C>T XP_011522692.1:n.1160+155C>T
XM_011524391.1:c.1304C>T XP_011522693.1:p.Thr435Ile
XM_011524385.2:c.1265+155C>T XP_011522687.1:n.1265+155C>T
XM_011524386.2:c.1238+155C>T XP_011522688.1:n.1238+155C>T
XM_011524387.2:c.1265+155C>T XP_011522689.1:n.1265+155C>T
XM_011524388.3:c.1265+155C>T XP_011522690.1:n.1265+155C>T
XM_011524389.2:c.1265+155C>T XP_011522691.1:n.1265+155C>T
XM_011524390.2:c.1160+155C>T XP_011522692.1:n.1160+155C>T
XM_011524391.3:c.1304C>T XP_011522693.1:p.Thr435Ile
NM_001264573.2:c.1238+155C>T NP_001251503.1:n.1238+155C>T
NM_001265577.2:c.1238+155C>T MANE Select NP_001252506.1:n.1238+155C>T
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