Canonical Allele Identifier: CA250364
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 209166
ClinVar RCV Id: RCV000191099 RCV000415815 RCV001847848 RCV003917729
dbSNP Id: rs148934699
ExAC: 17:4925475 C / T
gnomAD v2: 17-4925475-C-T
gnomAD v3: 17-5022180-C-T
gnomAD v4: 17-5022180-C-T
MyVariant Identifiers: chr17:g.4925475C>T (hg19) chr17:g.5022180C>T (hg38)
PubMed: PMID:24088041 PMID:26633545
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022180C>T , CM000679.2:g.5022180C>T GRCh38
NC_000017.10:g.4925475C>T , CM000679.1:g.4925475C>T GRCh37
NC_000017.9:g.4866199C>T NCBI36
NG_034137.1:g.29233C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2099C>T MANE Select ENSP00000320821.5:p.Pro700Leu
ENST00000320785.9:c.2099C>T ENSP00000320821.5:p.Pro700Leu
ENST00000573815.1:n.641C>T
NM_006612.5:c.2099C>T NP_006603.2:p.Pro700Leu
XM_005256424.1:c.2099C>T XP_005256481.1:p.Pro700Leu
XM_005256424.2:c.2099C>T XP_005256481.1:p.Pro700Leu
NM_006612.6:c.2099C>T MANE Select NP_006603.2:p.Pro700Leu
Search 100 bp 5'
Search 100 bp 3'