Canonical Allele Identifier: CA8319225
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs781185919
ExAC: 17:4925524 T / C
gnomAD v2: 17-4925524-T-C
gnomAD v4: 17-5022229-T-C
MyVariant Identifiers: chr17:g.4925524T>C (hg19) chr17:g.5022229T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022229T>C , CM000679.2:g.5022229T>C GRCh38
NC_000017.10:g.4925524T>C , CM000679.1:g.4925524T>C GRCh37
NC_000017.9:g.4866248T>C NCBI36
NG_034137.1:g.29282T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2148T>C MANE Select ENSP00000320821.5:p.Ser716=
ENST00000320785.9:c.2148T>C ENSP00000320821.5:p.Ser716=
ENST00000573815.1:n.690T>C
NM_006612.5:c.2148T>C NP_006603.2:p.Ser716=
XM_005256424.1:c.2148T>C XP_005256481.1:p.Ser716=
XM_005256424.2:c.2148T>C XP_005256481.1:p.Ser716=
NM_006612.6:c.2148T>C MANE Select NP_006603.2:p.Ser716=
Search 100 bp 5'
Search 100 bp 3'