Canonical Allele Identifier: CA8318865

Gene: KIF1C INCA1

Linked Data

• ClinVar Variation Id: 424675
• ClinVar RCV Id: RCV000487792 ; RCV000516075 ; RCV000497507 ; RCV001079974
• dbSNP Id: rs142056835
• ExAC: 17:4908241 G / A
• gnomAD v2: 17-4908241-G-A
• gnomAD v3: 17-5004946-G-A
• gnomAD v4: 17-5004946-G-A
• MyVariant Identifiers: chr17:g.4908241G>A (hg19) ; chr17:g.5004946G>A (hg38)
• PubMed: PMID:28832565

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5004946G>A , CM000679.2:g.5004946G>A	GRCh38
NC_000017.10:g.4908241G>A , CM000679.1:g.4908241G>A	GRCh37
NC_000017.9:g.4848965G>A	NCBI36
NG_034137.1:g.11999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.1111G>A (KIF1C) MANE Select	ENSP00000320821.5:p.Ala371Thr
ENST00000320785.9:c.1111G>A (KIF1C)	ENSP00000320821.5:p.Ala371Thr
NM_006612.5:c.1111G>A (KIF1C)	NP_006603.2:p.Ala371Thr
XM_005256424.1:c.1111G>A (KIF1C)	XP_005256481.1:p.Ala371Thr
XM_005256424.2:c.1111G>A (KIF1C)	XP_005256481.1:p.Ala371Thr
XM_024450745.1:c.-39+1136C>T (INCA1)	XP_024306513.1:n.-39+1136C>T
NM_006612.6:c.1111G>A (KIF1C) MANE Select	NP_006603.2:p.Ala371Thr