Canonical Allele Identifier: CA8319232

Gene: KIF1C

Linked Data

• ClinVar Variation Id: 2044038
• ClinVar RCV Id: RCV002913450 ; RCV002913451
• dbSNP Id: rs375660983
• ExAC: 17:4925543 C / T
• gnomAD v2: 17-4925543-C-T
• gnomAD v3: 17-5022248-C-T
• gnomAD v4: 17-5022248-C-T
• MyVariant Identifiers: chr17:g.4925543C>T (hg19) ; chr17:g.5022248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5022248C>T , CM000679.2:g.5022248C>T	GRCh38
NC_000017.10:g.4925543C>T , CM000679.1:g.4925543C>T	GRCh37
NC_000017.9:g.4866267C>T	NCBI36
NG_034137.1:g.29301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.2167C>T MANE Select	ENSP00000320821.5:p.Arg723Cys
ENST00000320785.9:c.2167C>T	ENSP00000320821.5:p.Arg723Cys
ENST00000573815.1:n.709C>T
NM_006612.5:c.2167C>T	NP_006603.2:p.Arg723Cys
XM_005256424.1:c.2167C>T	XP_005256481.1:p.Arg723Cys
XM_005256424.2:c.2167C>T	XP_005256481.1:p.Arg723Cys
NM_006612.6:c.2167C>T MANE Select	NP_006603.2:p.Arg723Cys