Canonical Allele Identifier: CA8319231
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs183619496
ExAC: 17:4925539 C / G
gnomAD v2: 17-4925539-C-G
gnomAD v3: 17-5022244-C-G
gnomAD v4: 17-5022244-C-G
MyVariant Identifiers: chr17:g.4925539C>G (hg19) chr17:g.5022244C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022244C>G , CM000679.2:g.5022244C>G GRCh38
NC_000017.10:g.4925539C>G , CM000679.1:g.4925539C>G GRCh37
NC_000017.9:g.4866263C>G NCBI36
NG_034137.1:g.29297C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2163C>G MANE Select ENSP00000320821.5:p.Ala721=
ENST00000320785.9:c.2163C>G ENSP00000320821.5:p.Ala721=
ENST00000573815.1:n.705C>G
NM_006612.5:c.2163C>G NP_006603.2:p.Ala721=
XM_005256424.1:c.2163C>G XP_005256481.1:p.Ala721=
XM_005256424.2:c.2163C>G XP_005256481.1:p.Ala721=
NM_006612.6:c.2163C>G MANE Select NP_006603.2:p.Ala721=
Search 100 bp 5'
Search 100 bp 3'