Canonical Allele Identifier: CA326935
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53573
ClinVar RCV Id: RCV002433535
dbSNP Id: rs397508440

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603690A>G , CM000669.2:g.117603690A>G GRCh38
NC_000007.13:g.117243744A>G , CM000669.1:g.117243744A>G GRCh37
NC_000007.12:g.117030980A>G NCBI36
NG_016465.4:g.142907A>G , LRG_663:g.142907A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2816A>G ENSP00000497673.2:p.His939Arg
ENST00000647978.2:c.*2530A>G ENSP00000497658.1:n.*2530A>G
ENST00000649781.2:c.2633A>G ENSP00000497203.1:p.His878Arg
ENST00000685018.2:c.2816A>G ENSP00000510194.2:p.His939Arg
ENST00000687278.2:c.2816A>G ENSP00000509593.2:p.His939Arg
ENST00000699585.1:c.2816A>G ENSP00000514456.1:p.His939Arg
ENST00000699598.1:c.2816A>G ENSP00000514467.1:p.His939Arg
ENST00000699599.1:c.2816A>G ENSP00000514468.1:p.His939Arg
ENST00000699600.1:c.2816A>G ENSP00000514469.1:p.His939Arg
ENST00000699601.1:c.*1116A>G ENSP00000514470.1:n.*1116A>G
ENST00000699602.1:c.2816A>G ENSP00000514471.1:p.His939Arg
ENST00000699604.1:c.*2640A>G ENSP00000514472.1:n.*2640A>G
ENST00000699605.1:c.2390A>G ENSP00000514473.1:p.His797Arg
ENST00000687278.1:c.407A>G ENSP00000509593.1:p.His136Arg
ENST00000003084.11:c.2816A>G MANE Select ENSP00000003084.6:p.His939Arg
ENST00000647720.1:c.466A>G
ENST00000648260.1:c.1598A>G ENSP00000497957.1:p.His533Arg
ENST00000649406.1:c.2633A>G ENSP00000497965.1:p.His878Arg
ENST00000649781.1:c.2633A>G ENSP00000497203.1:p.His878Arg
ENST00000003084.10:c.2816A>G ENSP00000003084.6:p.His939Arg
ENST00000426809.5:c.2726A>G ENSP00000389119.1:p.His909Arg
NM_000492.3:c.2816A>G , LRG_663t1:c.2816A>G NP_000483.3:p.His939Arg
XM_011515751.1:c.2906A>G XP_011514053.1:p.His969Arg
XM_011515752.1:c.2906A>G XP_011514054.1:p.His969Arg
XM_011515753.1:c.2573A>G XP_011514055.1:p.His858Arg
XM_011515754.1:c.2573A>G XP_011514056.1:p.His858Arg
NM_000492.4:c.2816A>G MANE Select NP_000483.3:p.His939Arg