Canonical Allele Identifier: CA368975455
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 983867
ClinVar RCV Id: RCV001263870
dbSNP Id: rs1792935619
MyVariant Identifiers: chr7:g.117282619G>A (hg19) chr7:g.117642565G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642565G>A , CM000669.2:g.117642565G>A GRCh38
NC_000007.13:g.117282619G>A , CM000669.1:g.117282619G>A GRCh37
NC_000007.12:g.117069855G>A NCBI36
NG_016465.4:g.181782G>A , LRG_663:g.181782G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*54G>A ENSP00000497673.2:n.*54G>A
ENST00000647978.2:c.*3559G>A ENSP00000497658.1:n.*3559G>A
ENST00000649781.2:c.3662G>A ENSP00000497203.1:p.Trp1221Ter
ENST00000685018.2:c.3845G>A ENSP00000510194.2:p.Trp1282Ter
ENST00000687278.2:c.*498G>A ENSP00000509593.2:n.*498G>A
ENST00000699585.1:c.*54G>A ENSP00000514456.1:n.*54G>A
ENST00000699598.1:c.3845G>A ENSP00000514467.1:p.Trp1282Ter
ENST00000699599.1:c.3845G>A ENSP00000514468.1:p.Trp1282Ter
ENST00000699600.1:c.*506G>A ENSP00000514469.1:n.*506G>A
ENST00000699601.1:c.*2220G>A ENSP00000514470.1:n.*2220G>A
ENST00000699602.1:c.3839G>A ENSP00000514471.1:p.Trp1280Ter
ENST00000699604.1:c.*3669G>A ENSP00000514472.1:n.*3669G>A
ENST00000699605.1:c.3419G>A ENSP00000514473.1:p.Trp1140Ter
ENST00000685018.1:c.593G>A ENSP00000510194.1:p.Trp198Ter
ENST00000687278.1:c.1632G>A ENSP00000509593.1:n.1632G>A
ENST00000689011.1:c.427G>A
ENST00000003084.11:c.3845G>A MANE Select ENSP00000003084.6:p.Trp1282Ter
ENST00000647720.1:c.1295G>A
ENST00000649781.1:c.3662G>A ENSP00000497203.1:p.Trp1221Ter
ENST00000003084.10:c.3845G>A ENSP00000003084.6:p.Trp1282Ter
ENST00000426809.5:c.3755G>A ENSP00000389119.1:p.Trp1252Ter
NM_000492.3:c.3845G>A , LRG_663t1:c.3845G>A NP_000483.3:p.Trp1282Ter
XM_011515751.1:c.3935G>A XP_011514053.1:p.Trp1312Ter
XM_011515752.1:c.3935G>A XP_011514054.1:p.Trp1312Ter
XM_011515753.1:c.3602G>A XP_011514055.1:p.Trp1201Ter
XM_011515754.1:c.3602G>A XP_011514056.1:p.Trp1201Ter
NM_000492.4:c.3845G>A MANE Select NP_000483.3:p.Trp1282Ter
Search 100 bp 5'
Search 100 bp 3'