Canonical Allele Identifier: CA413474819
Gene: KIF4A HGNC NCBI

Linked Data

ClinVar Variation Id: 523498
ClinVar RCV Id: RCV000626907
dbSNP Id: rs766819113
MyVariant Identifiers: chrX:g.69573536G>C (hg19) chrX:g.70353686G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70353686G>C , CM000685.2:g.70353686G>C GRCh38
NC_000023.10:g.69573536G>C , CM000685.1:g.69573536G>C GRCh37
NC_000023.9:g.69490261G>C NCBI36
NG_016799.1:g.68658G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374403.4:c.1553G>C MANE Select ENSP00000363524.3:p.Arg518Pro
ENST00000374403.3:c.1553G>C ENSP00000363524.3:p.Arg518Pro
NM_012310.4:c.1553G>C NP_036442.3:p.Arg518Pro
XM_011530893.1:c.1553G>C XP_011529195.1:p.Arg518Pro
NM_012310.5:c.1553G>C MANE Select NP_036442.3:p.Arg518Pro
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Search 100 bp 3'