Canonical Allele Identifier: CA368975969
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2036998
ClinVar RCV Id: RCV002899565
dbSNP Id: rs1791965061

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117587776T>C , CM000669.2:g.117587776T>C GRCh38
NC_000007.13:g.117227830T>C , CM000669.1:g.117227830T>C GRCh37
NC_000007.12:g.117015066T>C NCBI36
NG_016465.4:g.126993T>C , LRG_663:g.126993T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.1622T>C ENSP00000497673.2:p.Leu541Pro
ENST00000647978.2:c.*1336T>C ENSP00000497658.1:n.*1336T>C
ENST00000649781.2:c.1439T>C ENSP00000497203.1:p.Leu480Pro
ENST00000685018.2:c.1622T>C ENSP00000510194.2:p.Leu541Pro
ENST00000687278.2:c.1622T>C ENSP00000509593.2:p.Leu541Pro
ENST00000699585.1:c.1622T>C ENSP00000514456.1:p.Leu541Pro
ENST00000699598.1:c.1622T>C ENSP00000514467.1:p.Leu541Pro
ENST00000699599.1:c.1622T>C ENSP00000514468.1:p.Leu541Pro
ENST00000699600.1:c.1622T>C ENSP00000514469.1:p.Leu541Pro
ENST00000699601.1:c.1622T>C ENSP00000514470.1:p.Leu541Pro
ENST00000699602.1:c.1622T>C ENSP00000514471.1:p.Leu541Pro
ENST00000699604.1:c.*1446T>C ENSP00000514472.1:n.*1446T>C
ENST00000699605.1:c.1196T>C ENSP00000514473.1:p.Leu399Pro
ENST00000003084.11:c.1622T>C MANE Select ENSP00000003084.6:p.Leu541Pro
ENST00000647978.1:c.*1336T>C ENSP00000497658.1:n.*1336T>C
ENST00000648260.1:c.1402-15050T>C ENSP00000497957.1:n.1402-15050T>C
ENST00000649406.1:c.1439T>C ENSP00000497965.1:p.Leu480Pro
ENST00000649781.1:c.1439T>C ENSP00000497203.1:p.Leu480Pro
ENST00000003084.10:c.1622T>C ENSP00000003084.6:p.Leu541Pro
ENST00000426809.5:c.1532T>C ENSP00000389119.1:p.Leu511Pro
NM_000492.3:c.1622T>C , LRG_663t1:c.1622T>C NP_000483.3:p.Leu541Pro
XM_011515751.1:c.1712T>C XP_011514053.1:p.Leu571Pro
XM_011515752.1:c.1712T>C XP_011514054.1:p.Leu571Pro
XM_011515753.1:c.1379T>C XP_011514055.1:p.Leu460Pro
XM_011515754.1:c.1379T>C XP_011514056.1:p.Leu460Pro
NM_000492.4:c.1622T>C MANE Select NP_000483.3:p.Leu541Pro