Canonical Allele Identifier: CA8318643
Gene: KIF1C HGNC NCBI
INCA1 HGNC NCBI
ClinVar RCV:
RCV002590507
RCV003167471
RCV003456535
ClinVar Variation:
1916546
dbSNP:
142513387
gnomAD v2:
17:4906100 G / A
gnomAD v3:
17:5002805 G / A
gnomAD v4:
chr17-5002805-G-A
Joint Max Group AF 0.0003804 (AFR)
Genomes Max Group AF 0.00048066 (AFR)
Exomes Max Group AF 0.00016125 (AFR)
MyVariant.info:
GRCh38 chr17:g.5002805G>A
GRCh37 chr17:g.4906100G>A
Revel Score:
ENST00000320785 (MANE Select) 0.414
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'