Canonical Allele Identifier: CA8318643

Gene: KIF1C INCA1

Linked Data

• ClinVar Variation Id: 1916546
• ClinVar RCV Id: RCV002590507 ; RCV003167471 ; RCV003456535
• dbSNP Id: rs142513387
• ExAC: 17:4906100 G / A
• gnomAD v2: 17-4906100-G-A
• gnomAD v3: 17-5002805-G-A
• gnomAD v4: 17-5002805-G-A
• MyVariant Identifiers: chr17:g.4906100G>A (hg19) ; chr17:g.5002805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5002805G>A , CM000679.2:g.5002805G>A	GRCh38
NC_000017.10:g.4906100G>A , CM000679.1:g.4906100G>A	GRCh37
NC_000017.9:g.4846824G>A	NCBI36
NG_034137.1:g.9858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.683G>A (KIF1C) MANE Select	ENSP00000320821.5:p.Arg228His
ENST00000320785.9:c.683G>A (KIF1C)	ENSP00000320821.5:p.Arg228His
NM_006612.5:c.683G>A (KIF1C)	NP_006603.2:p.Arg228His
XM_005256424.1:c.683G>A (KIF1C)	XP_005256481.1:p.Arg228His
XM_005256424.2:c.683G>A (KIF1C)	XP_005256481.1:p.Arg228His
XM_024450745.1:c.-39+3277C>T (INCA1)	XP_024306513.1:n.-39+3277C>T
NM_006612.6:c.683G>A (KIF1C) MANE Select	NP_006603.2:p.Arg228His