Canonical Allele Identifier: CA368996092
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1036122
ClinVar RCV Id: RCV001339075
dbSNP Id: rs1792670307

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627551C>G , CM000669.2:g.117627551C>G GRCh38
NC_000007.13:g.117267605C>G , CM000669.1:g.117267605C>G GRCh37
NC_000007.12:g.117054841C>G NCBI36
NG_016465.4:g.166768C>G , LRG_663:g.166768C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3498C>G ENSP00000497673.2:p.Phe1166Leu
ENST00000647978.2:c.*3212C>G ENSP00000497658.1:n.*3212C>G
ENST00000649781.2:c.3315C>G ENSP00000497203.1:p.Phe1105Leu
ENST00000685018.2:c.3498C>G ENSP00000510194.2:p.Phe1166Leu
ENST00000687278.2:c.*151C>G ENSP00000509593.2:n.*151C>G
ENST00000699585.1:c.3498C>G ENSP00000514456.1:p.Phe1166Leu
ENST00000699598.1:c.3498C>G ENSP00000514467.1:p.Phe1166Leu
ENST00000699599.1:c.3498C>G ENSP00000514468.1:p.Phe1166Leu
ENST00000699600.1:c.*159C>G ENSP00000514469.1:n.*159C>G
ENST00000699601.1:c.*1873C>G ENSP00000514470.1:n.*1873C>G
ENST00000699602.1:c.3492C>G ENSP00000514471.1:p.Phe1164Leu
ENST00000699604.1:c.*3322C>G ENSP00000514472.1:n.*3322C>G
ENST00000699605.1:c.3072C>G ENSP00000514473.1:p.Phe1024Leu
ENST00000685018.1:c.246C>G ENSP00000510194.1:p.Phe82Leu
ENST00000687278.1:c.1285C>G ENSP00000509593.1:n.1285C>G
ENST00000689011.1:c.80C>G
ENST00000003084.11:c.3498C>G MANE Select ENSP00000003084.6:p.Phe1166Leu
ENST00000647720.1:c.1148C>G
ENST00000648260.1:c.2280C>G ENSP00000497957.1:p.Phe760Leu
ENST00000649406.1:c.3315C>G ENSP00000497965.1:p.Phe1105Leu
ENST00000649781.1:c.3315C>G ENSP00000497203.1:p.Phe1105Leu
ENST00000003084.10:c.3498C>G ENSP00000003084.6:p.Phe1166Leu
ENST00000426809.5:c.3408C>G ENSP00000389119.1:p.Phe1136Leu
ENST00000468795.1:c.323C>G
NM_000492.3:c.3498C>G , LRG_663t1:c.3498C>G NP_000483.3:p.Phe1166Leu
XM_011515751.1:c.3588C>G XP_011514053.1:p.Phe1196Leu
XM_011515752.1:c.3588C>G XP_011514054.1:p.Phe1196Leu
XM_011515753.1:c.3255C>G XP_011514055.1:p.Phe1085Leu
XM_011515754.1:c.3255C>G XP_011514056.1:p.Phe1085Leu
NM_000492.4:c.3498C>G MANE Select NP_000483.3:p.Phe1166Leu