Canonical Allele Identifier: CA287186259
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 1595233
ClinVar RCV Id: RCV002109471
dbSNP Id: rs202226954
gnomAD v4: 17-5022626-C-T
MyVariant Identifiers: chr17:g.4925921C>T (hg19) chr17:g.5022626C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022626C>T , CM000679.2:g.5022626C>T GRCh38
NC_000017.10:g.4925921C>T , CM000679.1:g.4925921C>T GRCh37
NC_000017.9:g.4866645C>T NCBI36
NG_034137.1:g.29679C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2545C>T MANE Select ENSP00000320821.5:p.Leu849=
ENST00000320785.9:c.2545C>T ENSP00000320821.5:p.Leu849=
NM_006612.5:c.2545C>T NP_006603.2:p.Leu849=
XM_005256424.1:c.2545C>T XP_005256481.1:p.Leu849=
XM_005256424.2:c.2545C>T XP_005256481.1:p.Leu849=
NM_006612.6:c.2545C>T MANE Select NP_006603.2:p.Leu849=
Search 100 bp 5'
Search 100 bp 3'