Canonical Allele Identifier: CA368982002
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2172852
ClinVar RCV Id: RCV002581616
dbSNP Id: rs1793340034

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664713A>G , CM000669.2:g.117664713A>G GRCh38
NC_000007.13:g.117304767A>G , CM000669.1:g.117304767A>G GRCh37
NC_000007.12:g.117092003A>G NCBI36
NG_016465.4:g.203930A>G , LRG_663:g.203930A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*198A>G ENSP00000497673.2:n.*198A>G
ENST00000647978.2:c.*3703A>G ENSP00000497658.1:n.*3703A>G
ENST00000649781.2:c.3806A>G ENSP00000497203.1:p.Gln1269Arg
ENST00000685018.2:c.*202A>G ENSP00000510194.2:n.*202A>G
ENST00000687278.2:c.*642A>G ENSP00000509593.2:n.*642A>G
ENST00000699585.1:c.*198A>G ENSP00000514456.1:n.*198A>G
ENST00000699598.1:c.3989A>G ENSP00000514467.1:p.Gln1330Arg
ENST00000699599.1:c.*202A>G ENSP00000514468.1:n.*202A>G
ENST00000699600.1:c.*650A>G ENSP00000514469.1:n.*650A>G
ENST00000699601.1:c.*2364A>G ENSP00000514470.1:n.*2364A>G
ENST00000699602.1:c.3983A>G ENSP00000514471.1:p.Gln1328Arg
ENST00000699604.1:c.*3813A>G ENSP00000514472.1:n.*3813A>G
ENST00000699605.1:c.3563A>G ENSP00000514473.1:p.Gln1188Arg
ENST00000699606.1:n.2157A>G
ENST00000685018.1:c.853A>G ENSP00000510194.1:n.853A>G
ENST00000687278.1:c.1776A>G ENSP00000509593.1:n.1776A>G
ENST00000689011.1:c.571A>G
ENST00000003084.11:c.3989A>G MANE Select ENSP00000003084.6:p.Gln1330Arg
ENST00000647720.1:c.1439A>G
ENST00000649781.1:c.3806A>G ENSP00000497203.1:p.Gln1269Arg
ENST00000003084.10:c.3989A>G ENSP00000003084.6:p.Gln1330Arg
ENST00000426809.5:c.3899A>G ENSP00000389119.1:p.Gln1300Arg
ENST00000600166.1:c.115A>G
NM_000492.3:c.3989A>G , LRG_663t1:c.3989A>G NP_000483.3:p.Gln1330Arg
XM_011515751.1:c.4079A>G XP_011514053.1:p.Gln1360Arg
XM_011515752.1:c.4079A>G XP_011514054.1:p.Gln1360Arg
XM_011515753.1:c.3746A>G XP_011514055.1:p.Gln1249Arg
XM_011515754.1:c.3746A>G XP_011514056.1:p.Gln1249Arg
NM_000492.4:c.3989A>G MANE Select NP_000483.3:p.Gln1330Arg