Canonical Allele Identifier: CA1191052

Gene: CFAP45

Linked Data

• dbSNP Id: rs747617357
• ExAC: 1:159856307 C / A
• gnomAD v2: 1-159856307-C-A
• gnomAD v3: 1-159886517-C-A
• gnomAD v4: 1-159886517-C-A
• COSMIC: COSM898084
• MyVariant Identifiers: chr1:g.159856307C>A (hg19) ; chr1:g.159886517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.159886517C>A , CM000663.2:g.159886517C>A	GRCh38
NC_000001.10:g.159856307C>A , CM000663.1:g.159856307C>A	GRCh37
NC_000001.9:g.158122931C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368099.9:c.761G>T MANE Select	ENSP00000357079.4:p.Arg254Ile
ENST00000368099.8:c.761G>T	ENSP00000357079.4:p.Arg254Ile
ENST00000426543.6:c.506G>T	ENSP00000403044.2:p.Arg169Ile
ENST00000476696.5:c.761G>T	ENSP00000483972.1:p.Arg254Ile
NM_012337.2:c.761G>T	NP_036469.2:p.Arg254Ile
NM_012337.3:c.761G>T MANE Select	NP_036469.2:p.Arg254Ile