Canonical Allele Identifier: CA343219739
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs1649690789
gnomAD v4: 1-159886537-C-G
MyVariant Identifiers: chr1:g.159856327C>G (hg19) chr1:g.159886537C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886537C>G , CM000663.2:g.159886537C>G GRCh38
NC_000001.10:g.159856327C>G , CM000663.1:g.159856327C>G GRCh37
NC_000001.9:g.158122951C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.741G>C MANE Select ENSP00000357079.4:p.Glu247Asp
ENST00000368099.8:c.741G>C ENSP00000357079.4:p.Glu247Asp
ENST00000426543.6:c.486G>C ENSP00000403044.2:p.Glu162Asp
ENST00000476696.5:c.741G>C ENSP00000483972.1:p.Glu247Asp
NM_012337.2:c.741G>C NP_036469.2:p.Glu247Asp
NM_012337.3:c.741G>C MANE Select NP_036469.2:p.Glu247Asp
Search 100 bp 5'
Search 100 bp 3'