Canonical Allele Identifier: CA8318771

Gene: KIF1C INCA1

Linked Data

• ClinVar Variation Id: 425119
• ClinVar RCV Id: RCV000488299 ; RCV001085446 ; RCV001848856
• dbSNP Id: rs146872023
• ExAC: 17:4907294 A / C
• gnomAD v2: 17-4907294-A-C
• gnomAD v3: 17-5003999-A-C
• gnomAD v4: 17-5003999-A-C
• MyVariant Identifiers: chr17:g.4907294A>C (hg19) ; chr17:g.5003999A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5003999A>C , CM000679.2:g.5003999A>C	GRCh38
NC_000017.10:g.4907294A>C , CM000679.1:g.4907294A>C	GRCh37
NC_000017.9:g.4848018A>C	NCBI36
NG_034137.1:g.11052A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.866A>C (KIF1C) MANE Select	ENSP00000320821.5:p.Gln289Pro
ENST00000320785.9:c.866A>C (KIF1C)	ENSP00000320821.5:p.Gln289Pro
NM_006612.5:c.866A>C (KIF1C)	NP_006603.2:p.Gln289Pro
XM_005256424.1:c.866A>C (KIF1C)	XP_005256481.1:p.Gln289Pro
XM_005256424.2:c.866A>C (KIF1C)	XP_005256481.1:p.Gln289Pro
XM_024450745.1:c.-39+2083T>G (INCA1)	XP_024306513.1:n.-39+2083T>G
NM_006612.6:c.866A>C (KIF1C) MANE Select	NP_006603.2:p.Gln289Pro