Canonical Allele Identifier: CA8319283
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs190022215
ExAC: 17:4925759 G / T
gnomAD v2: 17-4925759-G-T
gnomAD v3: 17-5022464-G-T
gnomAD v4: 17-5022464-G-T
MyVariant Identifiers: chr17:g.4925759G>T (hg19) chr17:g.5022464G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022464G>T , CM000679.2:g.5022464G>T GRCh38
NC_000017.10:g.4925759G>T , CM000679.1:g.4925759G>T GRCh37
NC_000017.9:g.4866483G>T NCBI36
NG_034137.1:g.29517G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2383G>T MANE Select ENSP00000320821.5:p.Ala795Ser
ENST00000320785.9:c.2383G>T ENSP00000320821.5:p.Ala795Ser
NM_006612.5:c.2383G>T NP_006603.2:p.Ala795Ser
XM_005256424.1:c.2383G>T XP_005256481.1:p.Ala795Ser
XM_005256424.2:c.2383G>T XP_005256481.1:p.Ala795Ser
NM_006612.6:c.2383G>T MANE Select NP_006603.2:p.Ala795Ser
Search 100 bp 5'
Search 100 bp 3'