Canonical Allele Identifier: CA327286
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53809
ClinVar RCV Id: RCV000046979
dbSNP Id: rs397508607

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642491T>G , CM000669.2:g.117642491T>G GRCh38
NC_000007.13:g.117282545T>G , CM000669.1:g.117282545T>G GRCh37
NC_000007.12:g.117069781T>G NCBI36
NG_016465.4:g.181708T>G , LRG_663:g.181708T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3571T>G ENSP00000497673.2:p.Phe1191Val
ENST00000647978.2:c.*3485T>G ENSP00000497658.1:n.*3485T>G
ENST00000649781.2:c.3588T>G ENSP00000497203.1:p.Phe1196Leu
ENST00000685018.2:c.3771T>G ENSP00000510194.2:p.Phe1257Leu
ENST00000687278.2:c.*424T>G ENSP00000509593.2:n.*424T>G
ENST00000699585.1:c.3571T>G ENSP00000514456.1:p.Phe1191Val
ENST00000699598.1:c.3771T>G ENSP00000514467.1:p.Phe1257Leu
ENST00000699599.1:c.3771T>G ENSP00000514468.1:p.Phe1257Leu
ENST00000699600.1:c.*432T>G ENSP00000514469.1:n.*432T>G
ENST00000699601.1:c.*2146T>G ENSP00000514470.1:n.*2146T>G
ENST00000699602.1:c.3765T>G ENSP00000514471.1:p.Phe1255Leu
ENST00000699604.1:c.*3595T>G ENSP00000514472.1:n.*3595T>G
ENST00000699605.1:c.3345T>G ENSP00000514473.1:p.Phe1115Leu
ENST00000685018.1:c.519T>G ENSP00000510194.1:p.Phe173Leu
ENST00000687278.1:c.1558T>G ENSP00000509593.1:n.1558T>G
ENST00000689011.1:c.353T>G
ENST00000003084.11:c.3771T>G MANE Select ENSP00000003084.6:p.Phe1257Leu
ENST00000647720.1:c.1221T>G
ENST00000649781.1:c.3588T>G ENSP00000497203.1:p.Phe1196Leu
ENST00000003084.10:c.3771T>G ENSP00000003084.6:p.Phe1257Leu
ENST00000426809.5:c.3681T>G ENSP00000389119.1:p.Phe1227Leu
NM_000492.3:c.3771T>G , LRG_663t1:c.3771T>G NP_000483.3:p.Phe1257Leu
XM_011515751.1:c.3861T>G XP_011514053.1:p.Phe1287Leu
XM_011515752.1:c.3861T>G XP_011514054.1:p.Phe1287Leu
XM_011515753.1:c.3528T>G XP_011514055.1:p.Phe1176Leu
XM_011515754.1:c.3528T>G XP_011514056.1:p.Phe1176Leu
NM_000492.4:c.3771T>G MANE Select NP_000483.3:p.Phe1257Leu