Canonical Allele Identifier: CA8319238
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs763310157
ExAC: 17:4925568 G / A
gnomAD v2: 17-4925568-G-A
gnomAD v3: 17-5022273-G-A
gnomAD v4: 17-5022273-G-A
MyVariant Identifiers: chr17:g.4925568G>A (hg19) chr17:g.5022273G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022273G>A , CM000679.2:g.5022273G>A GRCh38
NC_000017.10:g.4925568G>A , CM000679.1:g.4925568G>A GRCh37
NC_000017.9:g.4866292G>A NCBI36
NG_034137.1:g.29326G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2192G>A MANE Select ENSP00000320821.5:p.Arg731Gln
ENST00000320785.9:c.2192G>A ENSP00000320821.5:p.Arg731Gln
NM_006612.5:c.2192G>A NP_006603.2:p.Arg731Gln
XM_005256424.1:c.2192G>A XP_005256481.1:p.Arg731Gln
XM_005256424.2:c.2192G>A XP_005256481.1:p.Arg731Gln
NM_006612.6:c.2192G>A MANE Select NP_006603.2:p.Arg731Gln
Search 100 bp 5'
Search 100 bp 3'