Canonical Allele Identifier: CA343219727
Gene: CFAP45 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.159856324C>G (hg19) chr1:g.159886534C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886534C>G , CM000663.2:g.159886534C>G GRCh38
NC_000001.10:g.159856324C>G , CM000663.1:g.159856324C>G GRCh37
NC_000001.9:g.158122948C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.744G>C MANE Select ENSP00000357079.4:p.Arg248Ser
ENST00000368099.8:c.744G>C ENSP00000357079.4:p.Arg248Ser
ENST00000426543.6:c.489G>C ENSP00000403044.2:p.Arg163Ser
ENST00000476696.5:c.744G>C ENSP00000483972.1:p.Arg248Ser
NM_012337.2:c.744G>C NP_036469.2:p.Arg248Ser
NM_012337.3:c.744G>C MANE Select NP_036469.2:p.Arg248Ser
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Search 100 bp 3'