Canonical Allele Identifier: CA368990579
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1799175
ClinVar RCV Id: RCV002444022

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610573A>G , CM000669.2:g.117610573A>G GRCh38
NC_000007.13:g.117250627A>G , CM000669.1:g.117250627A>G GRCh37
NC_000007.12:g.117037863A>G NCBI36
NG_016465.4:g.149790A>G , LRG_663:g.149790A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3043A>G ENSP00000497673.2:p.Ile1015Val
ENST00000647978.2:c.*2757A>G ENSP00000497658.1:n.*2757A>G
ENST00000649781.2:c.2860A>G ENSP00000497203.1:p.Ile954Val
ENST00000685018.2:c.3043A>G ENSP00000510194.2:p.Ile1015Val
ENST00000687278.2:c.3043A>G ENSP00000509593.2:p.Ile1015Val
ENST00000699585.1:c.3043A>G ENSP00000514456.1:p.Ile1015Val
ENST00000699598.1:c.3043A>G ENSP00000514467.1:p.Ile1015Val
ENST00000699599.1:c.3043A>G ENSP00000514468.1:p.Ile1015Val
ENST00000699600.1:c.3043A>G ENSP00000514469.1:p.Ile1015Val
ENST00000699601.1:c.*1343A>G ENSP00000514470.1:n.*1343A>G
ENST00000699602.1:c.3043A>G ENSP00000514471.1:p.Ile1015Val
ENST00000699604.1:c.*2867A>G ENSP00000514472.1:n.*2867A>G
ENST00000699605.1:c.2617A>G ENSP00000514473.1:p.Ile873Val
ENST00000687278.1:c.634A>G ENSP00000509593.1:p.Ile212Val
ENST00000003084.11:c.3043A>G MANE Select ENSP00000003084.6:p.Ile1015Val
ENST00000647720.1:c.693A>G
ENST00000648260.1:c.1825A>G ENSP00000497957.1:p.Ile609Val
ENST00000649406.1:c.2860A>G ENSP00000497965.1:p.Ile954Val
ENST00000649781.1:c.2860A>G ENSP00000497203.1:p.Ile954Val
ENST00000003084.10:c.3043A>G ENSP00000003084.6:p.Ile1015Val
ENST00000426809.5:c.2953A>G ENSP00000389119.1:p.Ile985Val
NM_000492.3:c.3043A>G , LRG_663t1:c.3043A>G NP_000483.3:p.Ile1015Val
XM_011515751.1:c.3133A>G XP_011514053.1:p.Ile1045Val
XM_011515752.1:c.3133A>G XP_011514054.1:p.Ile1045Val
XM_011515753.1:c.2800A>G XP_011514055.1:p.Ile934Val
XM_011515754.1:c.2800A>G XP_011514056.1:p.Ile934Val
NM_000492.4:c.3043A>G MANE Select NP_000483.3:p.Ile1015Val