Canonical Allele Identifier: CA8319301

Gene: KIF1C

Linked Data

• ClinVar Variation Id: 2075864
• ClinVar RCV Id: RCV002968005 ; RCV003418692
• dbSNP Id: rs200610749
• ExAC: 17:4925860 G / A
• gnomAD v2: 17-4925860-G-A
• gnomAD v3: 17-5022565-G-A
• gnomAD v4: 17-5022565-G-A
• MyVariant Identifiers: chr17:g.4925860G>A (hg19) ; chr17:g.5022565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5022565G>A , CM000679.2:g.5022565G>A	GRCh38
NC_000017.10:g.4925860G>A , CM000679.1:g.4925860G>A	GRCh37
NC_000017.9:g.4866584G>A	NCBI36
NG_034137.1:g.29618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.2484G>A MANE Select	ENSP00000320821.5:p.Ala828=
ENST00000320785.9:c.2484G>A	ENSP00000320821.5:p.Ala828=
NM_006612.5:c.2484G>A	NP_006603.2:p.Ala828=
XM_005256424.1:c.2484G>A	XP_005256481.1:p.Ala828=
XM_005256424.2:c.2484G>A	XP_005256481.1:p.Ala828=
NM_006612.6:c.2484G>A MANE Select	NP_006603.2:p.Ala828=