Canonical Allele Identifier: CA8319281
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 2081274
ClinVar RCV Id: RCV002994159
dbSNP Id: rs540945645
ExAC: 17:4925747 G / A
gnomAD v2: 17-4925747-G-A
gnomAD v3: 17-5022452-G-A
gnomAD v4: 17-5022452-G-A
MyVariant Identifiers: chr17:g.4925747G>A (hg19) chr17:g.5022452G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022452G>A , CM000679.2:g.5022452G>A GRCh38
NC_000017.10:g.4925747G>A , CM000679.1:g.4925747G>A GRCh37
NC_000017.9:g.4866471G>A NCBI36
NG_034137.1:g.29505G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2371G>A MANE Select ENSP00000320821.5:p.Gly791Ser
ENST00000320785.9:c.2371G>A ENSP00000320821.5:p.Gly791Ser
NM_006612.5:c.2371G>A NP_006603.2:p.Gly791Ser
XM_005256424.1:c.2371G>A XP_005256481.1:p.Gly791Ser
XM_005256424.2:c.2371G>A XP_005256481.1:p.Gly791Ser
NM_006612.6:c.2371G>A MANE Select NP_006603.2:p.Gly791Ser
Search 100 bp 5'
Search 100 bp 3'