Canonical Allele Identifier: CA1191056
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs770550000
ExAC: 1:159856321 C / T
gnomAD v2: 1-159856321-C-T
gnomAD v4: 1-159886531-C-T
MyVariant Identifiers: chr1:g.159856321C>T (hg19) chr1:g.159886531C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886531C>T , CM000663.2:g.159886531C>T GRCh38
NC_000001.10:g.159856321C>T , CM000663.1:g.159856321C>T GRCh37
NC_000001.9:g.158122945C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.747G>A MANE Select ENSP00000357079.4:p.Lys249=
ENST00000368099.8:c.747G>A ENSP00000357079.4:p.Lys249=
ENST00000426543.6:c.492G>A ENSP00000403044.2:p.Lys164=
ENST00000476696.5:c.747G>A ENSP00000483972.1:p.Lys249=
NM_012337.2:c.747G>A NP_036469.2:p.Lys249=
NM_012337.3:c.747G>A MANE Select NP_036469.2:p.Lys249=
Search 100 bp 5'
Search 100 bp 3'