Canonical Allele Identifier: CA345310
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53425
dbSNP Id: rs368505753

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117509069C>T , CM000669.2:g.117509069C>T GRCh38
NC_000007.13:g.117149123C>T , CM000669.1:g.117149123C>T GRCh37
NC_000007.12:g.116936359C>T NCBI36
NG_016465.4:g.48286C>T , LRG_663:g.48286C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.200C>T ENSP00000497673.2:p.Pro67Leu
ENST00000647978.2:c.*97C>T ENSP00000497658.1:n.*97C>T
ENST00000649781.2:c.200C>T ENSP00000497203.1:p.Pro67Leu
ENST00000649850.2:c.*97C>T ENSP00000514457.1:n.*97C>T
ENST00000685018.2:c.200C>T ENSP00000510194.2:p.Pro67Leu
ENST00000687278.2:c.200C>T ENSP00000509593.2:p.Pro67Leu
ENST00000699585.1:c.200C>T ENSP00000514456.1:p.Pro67Leu
ENST00000699596.1:c.200C>T ENSP00000514465.1:p.Pro67Leu
ENST00000699597.1:c.200C>T ENSP00000514466.1:p.Pro67Leu
ENST00000699598.1:c.200C>T ENSP00000514467.1:p.Pro67Leu
ENST00000699599.1:c.200C>T ENSP00000514468.1:p.Pro67Leu
ENST00000699600.1:c.200C>T ENSP00000514469.1:p.Pro67Leu
ENST00000699601.1:c.200C>T ENSP00000514470.1:p.Pro67Leu
ENST00000699602.1:c.200C>T ENSP00000514471.1:p.Pro67Leu
ENST00000699604.1:c.*24C>T ENSP00000514472.1:n.*24C>T
ENST00000699605.1:c.-44C>T ENSP00000514473.1:n.-44C>T
ENST00000446805.2:c.-44C>T ENSP00000417012.1:n.-44C>T
ENST00000003084.11:c.200C>T MANE Select ENSP00000003084.6:p.Pro67Leu
ENST00000647639.1:n.284C>T
ENST00000647978.1:c.*97C>T ENSP00000497658.1:n.*97C>T
ENST00000648260.1:c.200C>T ENSP00000497957.1:p.Pro67Leu
ENST00000649406.1:c.200C>T ENSP00000497965.1:p.Pro67Leu
ENST00000649781.1:c.200C>T ENSP00000497203.1:p.Pro67Leu
ENST00000649850.1:n.357C>T
ENST00000673785.1:c.-44C>T ENSP00000501235.1:n.-44C>T
ENST00000003084.10:c.200C>T ENSP00000003084.6:p.Pro67Leu
ENST00000426809.5:c.200C>T ENSP00000389119.1:p.Pro67Leu
ENST00000446805.1:c.-44C>T ENSP00000417012.1:n.-44C>T
NM_000492.3:c.200C>T , LRG_663t1:c.200C>T NP_000483.3:p.Pro67Leu
XM_011515751.1:c.290C>T XP_011514053.1:p.Pro97Leu
XM_011515752.1:c.290C>T XP_011514054.1:p.Pro97Leu
XM_011515753.1:c.-44C>T XP_011514055.1:n.-44C>T
XM_011515754.1:c.-44C>T XP_011514056.1:n.-44C>T
NM_000492.4:c.200C>T MANE Select NP_000483.3:p.Pro67Leu