Canonical Allele Identifier: CA250366

Gene: KIF1C

Linked Data

• ClinVar Variation Id: 209167
• ClinVar RCV Id: RCV000191100 ; RCV000516061 ; RCV000859538 ; RCV003917730
• dbSNP Id: rs202232792
• ExAC: 17:4926868 C / T
• gnomAD v2: 17-4926868-C-T
• gnomAD v3: 17-5023573-C-T
• gnomAD v4: 17-5023573-C-T
• COSMIC: COSM3680509
• MyVariant Identifiers: chr17:g.4926868C>T (hg19) ; chr17:g.5023573C>T (hg38)
• PubMed: PMID:24088041 ; PMID:26633545 ; PMID:28832565

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5023573C>T , CM000679.2:g.5023573C>T	GRCh38
NC_000017.10:g.4926868C>T , CM000679.1:g.4926868C>T	GRCh37
NC_000017.9:g.4867592C>T	NCBI36
NG_034137.1:g.30626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.2734C>T MANE Select	ENSP00000320821.5:p.Arg912Trp
ENST00000320785.9:c.2734C>T	ENSP00000320821.5:p.Arg912Trp
NM_006612.5:c.2734C>T	NP_006603.2:p.Arg912Trp
XM_005256424.1:c.2734C>T	XP_005256481.1:p.Arg912Trp
XM_005256424.2:c.2734C>T	XP_005256481.1:p.Arg912Trp
NM_006612.6:c.2734C>T MANE Select	NP_006603.2:p.Arg912Trp