Canonical Allele Identifier: CA8318879

Linked Data

ClinVar Variation Id: 445377
dbSNP Id: rs192489748
gnomAD v2: 17-4908299-G-A
gnomAD v3: 17-5005004-G-A
gnomAD v4: 17-5005004-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5005004G>A , CM000679.2:g.5005004G>A GRCh38
NC_000017.10:g.4908299G>A , CM000679.1:g.4908299G>A GRCh37
NC_000017.9:g.4849023G>A NCBI36
NG_034137.1:g.12057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.1165+4G>A (KIF1C) MANE Select ENSP00000320821.5:n.1165+4G>A
ENST00000320785.9:c.1165+4G>A (KIF1C) ENSP00000320821.5:n.1165+4G>A
NM_006612.5:c.1165+4G>A (KIF1C) NP_006603.2:n.1165+4G>A
XM_005256424.1:c.1165+4G>A (KIF1C) XP_005256481.1:n.1165+4G>A
XM_005256424.2:c.1165+4G>A (KIF1C) XP_005256481.1:n.1165+4G>A
XM_024450745.1:c.-39+1078C>T (INCA1) XP_024306513.1:n.-39+1078C>T
NM_006612.6:c.1165+4G>A (KIF1C) MANE Select NP_006603.2:n.1165+4G>A