Canonical Allele Identifier: CA343219759
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs1205566738
gnomAD v2: 1-159856337-T-C
MyVariant Identifiers: chr1:g.159856337T>C (hg19) chr1:g.159886547T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886547T>C , CM000663.2:g.159886547T>C GRCh38
NC_000001.10:g.159856337T>C , CM000663.1:g.159856337T>C GRCh37
NC_000001.9:g.158122961T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.731A>G MANE Select ENSP00000357079.4:p.Glu244Gly
ENST00000368099.8:c.731A>G ENSP00000357079.4:p.Glu244Gly
ENST00000426543.6:c.476A>G ENSP00000403044.2:p.Glu159Gly
ENST00000476696.5:c.731A>G ENSP00000483972.1:p.Glu244Gly
NM_012337.2:c.731A>G NP_036469.2:p.Glu244Gly
NM_012337.3:c.731A>G MANE Select NP_036469.2:p.Glu244Gly
Search 100 bp 5'
Search 100 bp 3'