Canonical Allele Identifier: CA325555
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7158
dbSNP Id: rs121909019

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611638G>A , CM000669.2:g.117611638G>A GRCh38
NC_000007.13:g.117251692G>A , CM000669.1:g.117251692G>A GRCh37
NC_000007.12:g.117038928G>A NCBI36
NG_016465.4:g.150855G>A , LRG_663:g.150855G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3197G>A ENSP00000497673.2:p.Arg1066His
ENST00000647978.2:c.*2911G>A ENSP00000497658.1:n.*2911G>A
ENST00000649781.2:c.3014G>A ENSP00000497203.1:p.Arg1005His
ENST00000685018.2:c.3197G>A ENSP00000510194.2:p.Arg1066His
ENST00000687278.2:c.3197G>A ENSP00000509593.2:p.Arg1066His
ENST00000699585.1:c.3197G>A ENSP00000514456.1:p.Arg1066His
ENST00000699598.1:c.3197G>A ENSP00000514467.1:p.Arg1066His
ENST00000699599.1:c.3197G>A ENSP00000514468.1:p.Arg1066His
ENST00000699600.1:c.3197G>A ENSP00000514469.1:p.Arg1066His
ENST00000699601.1:c.*1497G>A ENSP00000514470.1:n.*1497G>A
ENST00000699602.1:c.3197G>A ENSP00000514471.1:p.Arg1066His
ENST00000699604.1:c.*3021G>A ENSP00000514472.1:n.*3021G>A
ENST00000699605.1:c.2771G>A ENSP00000514473.1:p.Arg924His
ENST00000687278.1:c.788G>A ENSP00000509593.1:p.Arg263His
ENST00000003084.11:c.3197G>A MANE Select ENSP00000003084.6:p.Arg1066His
ENST00000647720.1:c.847G>A
ENST00000648260.1:c.1979G>A ENSP00000497957.1:p.Arg660His
ENST00000649406.1:c.3014G>A ENSP00000497965.1:p.Arg1005His
ENST00000649781.1:c.3014G>A ENSP00000497203.1:p.Arg1005His
ENST00000003084.10:c.3197G>A ENSP00000003084.6:p.Arg1066His
ENST00000426809.5:c.3107G>A ENSP00000389119.1:p.Arg1036His
ENST00000468795.1:c.22G>A
NM_000492.3:c.3197G>A , LRG_663t1:c.3197G>A NP_000483.3:p.Arg1066His
XM_011515751.1:c.3287G>A XP_011514053.1:p.Arg1096His
XM_011515752.1:c.3287G>A XP_011514054.1:p.Arg1096His
XM_011515753.1:c.2954G>A XP_011514055.1:p.Arg985His
XM_011515754.1:c.2954G>A XP_011514056.1:p.Arg985His
NM_000492.4:c.3197G>A MANE Select NP_000483.3:p.Arg1066His