Canonical Allele Identifier: CA8609175

Gene: KIF18B

Linked Data

• dbSNP Id: rs757544680
• ExAC: 17:43003493 C / A
• gnomAD v2: 17-43003493-C-A
• gnomAD v4: 17-44926125-C-A
• MyVariant Identifiers: chr17:g.43003493C>A (hg19) ; chr17:g.44926125C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44926125C>A , CM000679.2:g.44926125C>A	GRCh38
NC_000017.10:g.43003493C>A , CM000679.1:g.43003493C>A	GRCh37
NC_000017.9:g.40359019C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593135.6:c.2514G>T MANE Select	ENSP00000465992.1:p.Val838=
ENST00000587309.5:c.*275G>T	ENSP00000465377.1:n.*275G>T
ENST00000593135.5:c.2514G>T	ENSP00000465992.1:p.Val838=
NM_001264573.1:c.*275G>T	NP_001251503.1:n.*275G>T
NM_001265577.1:c.2514G>T	NP_001252506.1:p.Val838=
XM_011524385.1:c.2577G>T	XP_011522687.1:p.Val859=
XM_011524386.1:c.2550G>T	XP_011522688.1:p.Val850=
XM_011524387.1:c.2550G>T	XP_011522689.1:p.Val850=
XM_011524388.1:c.2541G>T	XP_011522690.1:p.Val847=
XM_011524389.1:c.*275G>T	XP_011522691.1:n.*275G>T
XM_011524390.1:c.2472G>T	XP_011522692.1:p.Val824=
XM_011524385.2:c.2577G>T	XP_011522687.1:p.Val859=
XM_011524386.2:c.2550G>T	XP_011522688.1:p.Val850=
XM_011524387.2:c.2550G>T	XP_011522689.1:p.Val850=
XM_011524388.3:c.2541G>T	XP_011522690.1:p.Val847=
XM_011524389.2:c.*275G>T	XP_011522691.1:n.*275G>T
XM_011524390.2:c.2472G>T	XP_011522692.1:p.Val824=
NM_001264573.2:c.*275G>T	NP_001251503.1:n.*275G>T
NM_001265577.2:c.2514G>T MANE Select	NP_001252506.1:p.Val838=