Canonical Allele Identifier: CA343220042
Gene: CFAP45 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.159856462C>G (hg19) chr1:g.159886672C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886672C>G , CM000663.2:g.159886672C>G GRCh38
NC_000001.10:g.159856462C>G , CM000663.1:g.159856462C>G GRCh37
NC_000001.9:g.158123086C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.606G>C MANE Select ENSP00000357079.4:p.Lys202Asn
ENST00000368099.8:c.606G>C ENSP00000357079.4:p.Lys202Asn
ENST00000426543.6:c.351G>C ENSP00000403044.2:p.Lys117Asn
ENST00000476696.5:c.606G>C ENSP00000483972.1:p.Lys202Asn
ENST00000479940.2:c.351G>C ENSP00000478944.1:p.Lys117Asn
NM_012337.2:c.606G>C NP_036469.2:p.Lys202Asn
NM_012337.3:c.606G>C MANE Select NP_036469.2:p.Lys202Asn
Search 100 bp 5'
Search 100 bp 3'