Canonical Allele Identifier: CA175540
Gene: CFTR HGNC NCBI
CFTR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53229
dbSNP Id: rs147422190

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117548758G>T , CM000669.2:g.117548758G>T GRCh38
NC_000007.13:g.117188812G>T , CM000669.1:g.117188812G>T GRCh37
NC_000007.12:g.116976048G>T NCBI36
NG_016465.4:g.87975G>T , LRG_663:g.87975G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.1327G>T (CFTR) ENSP00000497673.2:p.Asp443Tyr
ENST00000647978.2:c.*1106+6650G>T (CFTR) ENSP00000497658.1:n.*1106+6650G>T
ENST00000649781.2:c.1209+6650G>T (CFTR) ENSP00000497203.1:n.1209+6650G>T
ENST00000685018.2:c.1327G>T (CFTR) ENSP00000510194.2:p.Asp443Tyr
ENST00000687278.2:c.1327G>T (CFTR) ENSP00000509593.2:p.Asp443Tyr
ENST00000699585.1:c.1327G>T (CFTR) ENSP00000514456.1:p.Asp443Tyr
ENST00000699596.1:c.1327G>T (CFTR) ENSP00000514465.1:p.Asp443Tyr
ENST00000699597.1:c.1327G>T (CFTR) ENSP00000514466.1:p.Asp443Tyr
ENST00000699598.1:c.1327G>T (CFTR) ENSP00000514467.1:p.Asp443Tyr
ENST00000699599.1:c.1327G>T (CFTR) ENSP00000514468.1:p.Asp443Tyr
ENST00000699600.1:c.1327G>T (CFTR) ENSP00000514469.1:p.Asp443Tyr
ENST00000699601.1:c.1327G>T (CFTR) ENSP00000514470.1:p.Asp443Tyr
ENST00000699602.1:c.1327G>T (CFTR) ENSP00000514471.1:p.Asp443Tyr
ENST00000699604.1:c.*1151G>T (CFTR) ENSP00000514472.1:n.*1151G>T
ENST00000699605.1:c.966+6650G>T (CFTR) ENSP00000514473.1:n.966+6650G>T
ENST00000003084.11:c.1327G>T (CFTR) MANE Select ENSP00000003084.6:p.Asp443Tyr
ENST00000647978.1:c.*1106+6650G>T (CFTR) ENSP00000497658.1:n.*1106+6650G>T
ENST00000648260.1:c.1209+6650G>T (CFTR) ENSP00000497957.1:n.1209+6650G>T
ENST00000649406.1:c.1209+6650G>T (CFTR) ENSP00000497965.1:n.1209+6650G>T
ENST00000649781.1:c.1209+6650G>T (CFTR) ENSP00000497203.1:n.1209+6650G>T
ENST00000003084.10:c.1327G>T (CFTR) ENSP00000003084.6:p.Asp443Tyr
ENST00000426809.5:c.1237G>T (CFTR) ENSP00000389119.1:p.Asp413Tyr
NM_000492.3:c.1327G>T , LRG_663t1:c.1327G>T (CFTR) NP_000483.3:p.Asp443Tyr
XM_011515751.1:c.1417G>T (CFTR) XP_011514053.1:p.Asp473Tyr
XM_011515752.1:c.1417G>T (CFTR) XP_011514054.1:p.Asp473Tyr
XM_011515753.1:c.1084G>T (CFTR) XP_011514055.1:p.Asp362Tyr
XM_011515754.1:c.1084G>T (CFTR) XP_011514056.1:p.Asp362Tyr
NR_149084.1:n.222-6219C>A (CFTR-AS1)
NM_000492.4:c.1327G>T (CFTR) MANE Select NP_000483.3:p.Asp443Tyr