Canonical Allele Identifier: CA343219839
Gene: CFAP45 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.159856373A>C (hg19) chr1:g.159886583A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886583A>C , CM000663.2:g.159886583A>C GRCh38
NC_000001.10:g.159856373A>C , CM000663.1:g.159856373A>C GRCh37
NC_000001.9:g.158122997A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.695T>G MANE Select ENSP00000357079.4:p.Met232Arg
ENST00000368099.8:c.695T>G ENSP00000357079.4:p.Met232Arg
ENST00000426543.6:c.440T>G ENSP00000403044.2:p.Met147Arg
ENST00000476696.5:c.695T>G ENSP00000483972.1:p.Met232Arg
NM_012337.2:c.695T>G NP_036469.2:p.Met232Arg
NM_012337.3:c.695T>G MANE Select NP_036469.2:p.Met232Arg
Search 100 bp 5'
Search 100 bp 3'