Canonical Allele Identifier: CA8319220

Gene: KIF1C

Linked Data

• ClinVar Variation Id: 508474
• ClinVar RCV Id: RCV000602782 ; RCV001855215
• dbSNP Id: rs372267137
• ExAC: 17:4925485 G / A
• gnomAD v2: 17-4925485-G-A
• gnomAD v3: 17-5022190-G-A
• gnomAD v4: 17-5022190-G-A
• COSMIC: COSM981374
• MyVariant Identifiers: chr17:g.4925485G>A (hg19) ; chr17:g.5022190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5022190G>A , CM000679.2:g.5022190G>A	GRCh38
NC_000017.10:g.4925485G>A , CM000679.1:g.4925485G>A	GRCh37
NC_000017.9:g.4866209G>A	NCBI36
NG_034137.1:g.29243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.2109G>A MANE Select	ENSP00000320821.5:p.Thr703=
ENST00000320785.9:c.2109G>A	ENSP00000320821.5:p.Thr703=
ENST00000573815.1:n.651G>A
NM_006612.5:c.2109G>A	NP_006603.2:p.Thr703=
XM_005256424.1:c.2109G>A	XP_005256481.1:p.Thr703=
XM_005256424.2:c.2109G>A	XP_005256481.1:p.Thr703=
NM_006612.6:c.2109G>A MANE Select	NP_006603.2:p.Thr703=