Canonical Allele Identifier: CA368984742
Community Standard Title: NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg)
Gene: CFTR HGNC NCBI
CFTR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117559596G>C , CM000669.2:g.117559596G>C GRCh38
NC_000007.13:g.117199650G>C , CM000669.1:g.117199650G>C GRCh37
NC_000007.12:g.116986886G>C NCBI36
NG_016465.4:g.98813G>C , LRG_663:g.98813G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000492.4:c.1525G>C (CFTR) MANE Select NP_000483.3:p.Gly509Arg
ENST00000003084.11:c.1525G>C (CFTR) MANE Select ENSP00000003084.6:p.Gly509Arg
NM_000492.3:c.1525G>C , LRG_663t1:c.1525G>C (CFTR) NP_000483.3:p.Gly509Arg
NR_149084.1:n.221+1137C>G (CFTR-AS1)
ENST00000003084.10:c.1525G>C (CFTR) ENSP00000003084.6:p.Gly509Arg
ENST00000426809.5:c.1435G>C (CFTR) ENSP00000389119.1:p.Gly479Arg
ENST00000647720.2:c.1525G>C (CFTR) ENSP00000497673.2:p.Gly509Arg
ENST00000647978.1:c.*1239G>C (CFTR) ENSP00000497658.1:n.*1239G>C
ENST00000647978.2:c.*1239G>C (CFTR) ENSP00000497658.1:n.*1239G>C
ENST00000648260.1:c.1342G>C (CFTR) ENSP00000497957.1:p.Gly448Arg
ENST00000649406.1:c.1342G>C (CFTR) ENSP00000497965.1:p.Gly448Arg
ENST00000649781.1:c.1342G>C (CFTR) ENSP00000497203.1:p.Gly448Arg
ENST00000649781.2:c.1342G>C (CFTR) ENSP00000497203.1:p.Gly448Arg
ENST00000685018.2:c.1525G>C (CFTR) ENSP00000510194.2:p.Gly509Arg
ENST00000687278.2:c.1525G>C (CFTR) ENSP00000509593.2:p.Gly509Arg
ENST00000699585.1:c.1525G>C (CFTR) ENSP00000514456.1:p.Gly509Arg
ENST00000699596.1:c.1525G>C (CFTR) ENSP00000514465.1:p.Gly509Arg
ENST00000699597.1:c.*83G>C (CFTR) ENSP00000514466.1:n.*83G>C
ENST00000699598.1:c.1525G>C (CFTR) ENSP00000514467.1:p.Gly509Arg
ENST00000699599.1:c.1525G>C (CFTR) ENSP00000514468.1:p.Gly509Arg
ENST00000699600.1:c.1525G>C (CFTR) ENSP00000514469.1:p.Gly509Arg
ENST00000699601.1:c.1525G>C (CFTR) ENSP00000514470.1:p.Gly509Arg
ENST00000699602.1:c.1525G>C (CFTR) ENSP00000514471.1:p.Gly509Arg
ENST00000699604.1:c.*1349G>C (CFTR) ENSP00000514472.1:n.*1349G>C
ENST00000699605.1:c.1099G>C (CFTR) ENSP00000514473.1:p.Gly367Arg
XM_011515751.1:c.1615G>C (CFTR) XP_011514053.1:p.Gly539Arg
XM_011515752.1:c.1615G>C (CFTR) XP_011514054.1:p.Gly539Arg
XM_011515753.1:c.1282G>C (CFTR) XP_011514055.1:p.Gly428Arg
XM_011515754.1:c.1282G>C (CFTR) XP_011514056.1:p.Gly428Arg