Canonical Allele Identifier: CA1191054
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs777189214
ExAC: 1:159856311 C / G
gnomAD v2: 1-159856311-C-G
gnomAD v4: 1-159886521-C-G
MyVariant Identifiers: chr1:g.159856311C>G (hg19) chr1:g.159886521C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886521C>G , CM000663.2:g.159886521C>G GRCh38
NC_000001.10:g.159856311C>G , CM000663.1:g.159856311C>G GRCh37
NC_000001.9:g.158122935C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.757G>C MANE Select ENSP00000357079.4:p.Glu253Gln
ENST00000368099.8:c.757G>C ENSP00000357079.4:p.Glu253Gln
ENST00000426543.6:c.502G>C ENSP00000403044.2:p.Glu168Gln
ENST00000476696.5:c.757G>C ENSP00000483972.1:p.Glu253Gln
NM_012337.2:c.757G>C NP_036469.2:p.Glu253Gln
NM_012337.3:c.757G>C MANE Select NP_036469.2:p.Glu253Gln
Search 100 bp 5'
Search 100 bp 3'