Canonical Allele Identifier: CA1191073
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs748751238
ExAC: 1:159856389 G / A
gnomAD v2: 1-159856389-G-A
gnomAD v3: 1-159886599-G-A
gnomAD v4: 1-159886599-G-A
MyVariant Identifiers: chr1:g.159856389G>A (hg19) chr1:g.159886599G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886599G>A , CM000663.2:g.159886599G>A GRCh38
NC_000001.10:g.159856389G>A , CM000663.1:g.159856389G>A GRCh37
NC_000001.9:g.158123013G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.679C>T MANE Select ENSP00000357079.4:p.Arg227Trp
ENST00000368099.8:c.679C>T ENSP00000357079.4:p.Arg227Trp
ENST00000426543.6:c.424C>T ENSP00000403044.2:p.Arg142Trp
ENST00000476696.5:c.679C>T ENSP00000483972.1:p.Arg227Trp
ENST00000479940.2:c.424C>T
NM_012337.2:c.679C>T NP_036469.2:p.Arg227Trp
NM_012337.3:c.679C>T MANE Select NP_036469.2:p.Arg227Trp
Search 100 bp 5'
Search 100 bp 3'