Canonical Allele Identifier: CA343219919
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs1254891214
gnomAD v2: 1-159856409-T-C
gnomAD v4: 1-159886619-T-C
MyVariant Identifiers: chr1:g.159856409T>C (hg19) chr1:g.159886619T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886619T>C , CM000663.2:g.159886619T>C GRCh38
NC_000001.10:g.159856409T>C , CM000663.1:g.159856409T>C GRCh37
NC_000001.9:g.158123033T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.659A>G MANE Select ENSP00000357079.4:p.Glu220Gly
ENST00000368099.8:c.659A>G ENSP00000357079.4:p.Glu220Gly
ENST00000426543.6:c.404A>G ENSP00000403044.2:p.Glu135Gly
ENST00000476696.5:c.659A>G ENSP00000483972.1:p.Glu220Gly
ENST00000479940.2:c.404A>G ENSP00000478944.1:p.Glu135Gly
NM_012337.2:c.659A>G NP_036469.2:p.Glu220Gly
NM_012337.3:c.659A>G MANE Select NP_036469.2:p.Glu220Gly
Search 100 bp 5'
Search 100 bp 3'