Canonical Allele Identifier: CA326640
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53363
ClinVar RCV Id: RCV000577439
dbSNP Id: rs397508287

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117590408G>T , CM000669.2:g.117590408G>T GRCh38
NC_000007.13:g.117230462G>T , CM000669.1:g.117230462G>T GRCh37
NC_000007.12:g.117017698G>T NCBI36
NG_016465.4:g.129625G>T , LRG_663:g.129625G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1735G>T ENSP00000497673.2:p.Asp579Tyr
ENST00000647978.2:c.*1449G>T ENSP00000497658.1:n.*1449G>T
ENST00000649781.2:c.1552G>T ENSP00000497203.1:p.Asp518Tyr
ENST00000685018.2:c.1735G>T ENSP00000510194.2:p.Asp579Tyr
ENST00000687278.2:c.1735G>T ENSP00000509593.2:p.Asp579Tyr
ENST00000699585.1:c.1735G>T ENSP00000514456.1:p.Asp579Tyr
ENST00000699598.1:c.1735G>T ENSP00000514467.1:p.Asp579Tyr
ENST00000699599.1:c.1735G>T ENSP00000514468.1:p.Asp579Tyr
ENST00000699600.1:c.1735G>T ENSP00000514469.1:p.Asp579Tyr
ENST00000699601.1:c.*35G>T ENSP00000514470.1:n.*35G>T
ENST00000699602.1:c.1735G>T ENSP00000514471.1:p.Asp579Tyr
ENST00000699604.1:c.*1559G>T ENSP00000514472.1:n.*1559G>T
ENST00000699605.1:c.1309G>T ENSP00000514473.1:p.Asp437Tyr
ENST00000003084.11:c.1735G>T MANE Select ENSP00000003084.6:p.Asp579Tyr
ENST00000647978.1:c.*1449G>T ENSP00000497658.1:n.*1449G>T
ENST00000648260.1:c.1402-12418G>T ENSP00000497957.1:n.1402-12418G>T
ENST00000649406.1:c.1552G>T ENSP00000497965.1:p.Asp518Tyr
ENST00000649781.1:c.1552G>T ENSP00000497203.1:p.Asp518Tyr
ENST00000003084.10:c.1735G>T ENSP00000003084.6:p.Asp579Tyr
ENST00000426809.5:c.1645G>T ENSP00000389119.1:p.Asp549Tyr
NM_000492.3:c.1735G>T , LRG_663t1:c.1735G>T NP_000483.3:p.Asp579Tyr
XM_011515751.1:c.1825G>T XP_011514053.1:p.Asp609Tyr
XM_011515752.1:c.1825G>T XP_011514054.1:p.Asp609Tyr
XM_011515753.1:c.1492G>T XP_011514055.1:p.Asp498Tyr
XM_011515754.1:c.1492G>T XP_011514056.1:p.Asp498Tyr
NM_000492.4:c.1735G>T MANE Select NP_000483.3:p.Asp579Tyr