Canonical Allele Identifier: CA368996043
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627544T>G , CM000669.2:g.117627544T>G GRCh38
NC_000007.13:g.117267598T>G , CM000669.1:g.117267598T>G GRCh37
NC_000007.12:g.117054834T>G NCBI36
NG_016465.4:g.166761T>G , LRG_663:g.166761T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3491T>G ENSP00000497673.2:p.Phe1164Cys
ENST00000647978.2:c.*3205T>G ENSP00000497658.1:n.*3205T>G
ENST00000649781.2:c.3308T>G ENSP00000497203.1:p.Phe1103Cys
ENST00000685018.2:c.3491T>G ENSP00000510194.2:p.Phe1164Cys
ENST00000687278.2:c.*144T>G ENSP00000509593.2:n.*144T>G
ENST00000699585.1:c.3491T>G ENSP00000514456.1:p.Phe1164Cys
ENST00000699598.1:c.3491T>G ENSP00000514467.1:p.Phe1164Cys
ENST00000699599.1:c.3491T>G ENSP00000514468.1:p.Phe1164Cys
ENST00000699600.1:c.*152T>G ENSP00000514469.1:n.*152T>G
ENST00000699601.1:c.*1866T>G ENSP00000514470.1:n.*1866T>G
ENST00000699602.1:c.3485T>G ENSP00000514471.1:p.Phe1162Cys
ENST00000699604.1:c.*3315T>G ENSP00000514472.1:n.*3315T>G
ENST00000699605.1:c.3065T>G ENSP00000514473.1:p.Phe1022Cys
ENST00000685018.1:c.239T>G ENSP00000510194.1:p.Phe80Cys
ENST00000687278.1:c.1278T>G ENSP00000509593.1:n.1278T>G
ENST00000689011.1:c.73T>G
ENST00000003084.11:c.3491T>G MANE Select ENSP00000003084.6:p.Phe1164Cys
ENST00000647720.1:c.1141T>G
ENST00000648260.1:c.2273T>G ENSP00000497957.1:p.Phe758Cys
ENST00000649406.1:c.3308T>G ENSP00000497965.1:p.Phe1103Cys
ENST00000649781.1:c.3308T>G ENSP00000497203.1:p.Phe1103Cys
ENST00000003084.10:c.3491T>G ENSP00000003084.6:p.Phe1164Cys
ENST00000426809.5:c.3401T>G ENSP00000389119.1:p.Phe1134Cys
ENST00000468795.1:c.316T>G
NM_000492.3:c.3491T>G , LRG_663t1:c.3491T>G NP_000483.3:p.Phe1164Cys
XM_011515751.1:c.3581T>G XP_011514053.1:p.Phe1194Cys
XM_011515752.1:c.3581T>G XP_011514054.1:p.Phe1194Cys
XM_011515753.1:c.3248T>G XP_011514055.1:p.Phe1083Cys
XM_011515754.1:c.3248T>G XP_011514056.1:p.Phe1083Cys
NM_000492.4:c.3491T>G MANE Select NP_000483.3:p.Phe1164Cys