Canonical Allele Identifier: CA287186200

Gene: KIF1C

Linked Data

• ClinVar Variation Id: 536733
• ClinVar RCV Id: RCV000645366 ; RCV004025677
• dbSNP Id: rs539082919
• gnomAD v2: 17-4925861-G-A
• gnomAD v3: 17-5022566-G-A
• gnomAD v4: 17-5022566-G-A
• MyVariant Identifiers: chr17:g.4925861G>A (hg19) ; chr17:g.5022566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5022566G>A , CM000679.2:g.5022566G>A	GRCh38
NC_000017.10:g.4925861G>A , CM000679.1:g.4925861G>A	GRCh37
NC_000017.9:g.4866585G>A	NCBI36
NG_034137.1:g.29619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.2485G>A MANE Select	ENSP00000320821.5:p.Glu829Lys
ENST00000320785.9:c.2485G>A	ENSP00000320821.5:p.Glu829Lys
NM_006612.5:c.2485G>A	NP_006603.2:p.Glu829Lys
XM_005256424.1:c.2485G>A	XP_005256481.1:p.Glu829Lys
XM_005256424.2:c.2485G>A	XP_005256481.1:p.Glu829Lys
NM_006612.6:c.2485G>A MANE Select	NP_006603.2:p.Glu829Lys