Canonical Allele Identifier: CA1191092
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs149299675
ExAC: 1:159856474 G / C
gnomAD v2: 1-159856474-G-C
gnomAD v3: 1-159886684-G-C
gnomAD v4: 1-159886684-G-C
MyVariant Identifiers: chr1:g.159856474G>C (hg19) chr1:g.159886684G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886684G>C , CM000663.2:g.159886684G>C GRCh38
NC_000001.10:g.159856474G>C , CM000663.1:g.159856474G>C GRCh37
NC_000001.9:g.158123098G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.594C>G MANE Select ENSP00000357079.4:p.Ile198Met
ENST00000368099.8:c.594C>G ENSP00000357079.4:p.Ile198Met
ENST00000426543.6:c.339C>G ENSP00000403044.2:p.Ile113Met
ENST00000476696.5:c.594C>G ENSP00000483972.1:p.Ile198Met
ENST00000479940.2:c.339C>G ENSP00000478944.1:p.Ile113Met
NM_012337.2:c.594C>G NP_036469.2:p.Ile198Met
NM_012337.3:c.594C>G MANE Select NP_036469.2:p.Ile198Met
Search 100 bp 5'
Search 100 bp 3'