Canonical Allele Identifier: CA254110
Gene: CFTR HGNC NCBI
CFTR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7131
dbSNP Id: rs1800091

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117559587A>G , CM000669.2:g.117559587A>G GRCh38
NC_000007.13:g.117199641A>G , CM000669.1:g.117199641A>G GRCh37
NC_000007.12:g.116986877A>G NCBI36
NG_016465.4:g.98804A>G , LRG_663:g.98804A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.1516A>G (CFTR) ENSP00000497673.2:p.Ile506Val
ENST00000647978.2:c.*1230A>G (CFTR) ENSP00000497658.1:n.*1230A>G
ENST00000649781.2:c.1333A>G (CFTR) ENSP00000497203.1:p.Ile445Val
ENST00000685018.2:c.1516A>G (CFTR) ENSP00000510194.2:p.Ile506Val
ENST00000687278.2:c.1516A>G (CFTR) ENSP00000509593.2:p.Ile506Val
ENST00000699585.1:c.1516A>G (CFTR) ENSP00000514456.1:p.Ile506Val
ENST00000699596.1:c.1516A>G (CFTR) ENSP00000514465.1:p.Ile506Val
ENST00000699597.1:c.*74A>G (CFTR) ENSP00000514466.1:n.*74A>G
ENST00000699598.1:c.1516A>G (CFTR) ENSP00000514467.1:p.Ile506Val
ENST00000699599.1:c.1516A>G (CFTR) ENSP00000514468.1:p.Ile506Val
ENST00000699600.1:c.1516A>G (CFTR) ENSP00000514469.1:p.Ile506Val
ENST00000699601.1:c.1516A>G (CFTR) ENSP00000514470.1:p.Ile506Val
ENST00000699602.1:c.1516A>G (CFTR) ENSP00000514471.1:p.Ile506Val
ENST00000699604.1:c.*1340A>G (CFTR) ENSP00000514472.1:n.*1340A>G
ENST00000699605.1:c.1090A>G (CFTR) ENSP00000514473.1:p.Ile364Val
ENST00000003084.11:c.1516A>G (CFTR) MANE Select ENSP00000003084.6:p.Ile506Val
ENST00000647978.1:c.*1230A>G (CFTR) ENSP00000497658.1:n.*1230A>G
ENST00000648260.1:c.1333A>G (CFTR) ENSP00000497957.1:p.Ile445Val
ENST00000649406.1:c.1333A>G (CFTR) ENSP00000497965.1:p.Ile445Val
ENST00000649781.1:c.1333A>G (CFTR) ENSP00000497203.1:p.Ile445Val
ENST00000003084.10:c.1516A>G (CFTR) ENSP00000003084.6:p.Ile506Val
ENST00000426809.5:c.1426A>G (CFTR) ENSP00000389119.1:p.Ile476Val
NM_000492.3:c.1516A>G , LRG_663t1:c.1516A>G (CFTR) NP_000483.3:p.Ile506Val
XM_011515751.1:c.1606A>G (CFTR) XP_011514053.1:p.Ile536Val
XM_011515752.1:c.1606A>G (CFTR) XP_011514054.1:p.Ile536Val
XM_011515753.1:c.1273A>G (CFTR) XP_011514055.1:p.Ile425Val
XM_011515754.1:c.1273A>G (CFTR) XP_011514056.1:p.Ile425Val
NR_149084.1:n.221+1146T>C (CFTR-AS1)
NM_000492.4:c.1516A>G (CFTR) MANE Select NP_000483.3:p.Ile506Val