Canonical Allele Identifier: CA368996238
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1732294
ClinVar RCV Id: RCV002459349

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627577C>T , CM000669.2:g.117627577C>T GRCh38
NC_000007.13:g.117267631C>T , CM000669.1:g.117267631C>T GRCh37
NC_000007.12:g.117054867C>T NCBI36
NG_016465.4:g.166794C>T , LRG_663:g.166794C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+7C>T ENSP00000497673.2:n.3517+7C>T
ENST00000647978.2:c.*3238C>T ENSP00000497658.1:n.*3238C>T
ENST00000649781.2:c.3341C>T ENSP00000497203.1:p.Pro1114Leu
ENST00000685018.2:c.3524C>T ENSP00000510194.2:p.Pro1175Leu
ENST00000687278.2:c.*177C>T ENSP00000509593.2:n.*177C>T
ENST00000699585.1:c.3517+7C>T ENSP00000514456.1:n.3517+7C>T
ENST00000699598.1:c.3524C>T ENSP00000514467.1:p.Pro1175Leu
ENST00000699599.1:c.3524C>T ENSP00000514468.1:p.Pro1175Leu
ENST00000699600.1:c.*185C>T ENSP00000514469.1:n.*185C>T
ENST00000699601.1:c.*1899C>T ENSP00000514470.1:n.*1899C>T
ENST00000699602.1:c.3518C>T ENSP00000514471.1:p.Pro1173Leu
ENST00000699604.1:c.*3348C>T ENSP00000514472.1:n.*3348C>T
ENST00000699605.1:c.3098C>T ENSP00000514473.1:p.Pro1033Leu
ENST00000685018.1:c.272C>T ENSP00000510194.1:p.Pro91Leu
ENST00000687278.1:c.1311C>T ENSP00000509593.1:n.1311C>T
ENST00000689011.1:c.106C>T
ENST00000003084.11:c.3524C>T MANE Select ENSP00000003084.6:p.Pro1175Leu
ENST00000647720.1:c.1167+7C>T
ENST00000648260.1:c.2306C>T ENSP00000497957.1:p.Pro769Leu
ENST00000649406.1:c.3341C>T ENSP00000497965.1:p.Pro1114Leu
ENST00000649781.1:c.3341C>T ENSP00000497203.1:p.Pro1114Leu
ENST00000003084.10:c.3524C>T ENSP00000003084.6:p.Pro1175Leu
ENST00000426809.5:c.3434C>T ENSP00000389119.1:p.Pro1145Leu
ENST00000468795.1:c.349C>T
NM_000492.3:c.3524C>T , LRG_663t1:c.3524C>T NP_000483.3:p.Pro1175Leu
XM_011515751.1:c.3614C>T XP_011514053.1:p.Pro1205Leu
XM_011515752.1:c.3614C>T XP_011514054.1:p.Pro1205Leu
XM_011515753.1:c.3281C>T XP_011514055.1:p.Pro1094Leu
XM_011515754.1:c.3281C>T XP_011514056.1:p.Pro1094Leu
NM_000492.4:c.3524C>T MANE Select NP_000483.3:p.Pro1175Leu