Canonical Allele Identifier: CA8319318
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs773380705
ExAC: 17:4925919 A / G
gnomAD v2: 17-4925919-A-G
gnomAD v3: 17-5022624-A-G
gnomAD v4: 17-5022624-A-G
MyVariant Identifiers: chr17:g.4925919A>G (hg19) chr17:g.5022624A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022624A>G , CM000679.2:g.5022624A>G GRCh38
NC_000017.10:g.4925919A>G , CM000679.1:g.4925919A>G GRCh37
NC_000017.9:g.4866643A>G NCBI36
NG_034137.1:g.29677A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2543A>G MANE Select ENSP00000320821.5:p.Lys848Arg
ENST00000320785.9:c.2543A>G ENSP00000320821.5:p.Lys848Arg
NM_006612.5:c.2543A>G NP_006603.2:p.Lys848Arg
XM_005256424.1:c.2543A>G XP_005256481.1:p.Lys848Arg
XM_005256424.2:c.2543A>G XP_005256481.1:p.Lys848Arg
NM_006612.6:c.2543A>G MANE Select NP_006603.2:p.Lys848Arg
Search 100 bp 5'
Search 100 bp 3'