Canonical Allele Identifier: CA368996402
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627613T>G , CM000669.2:g.117627613T>G GRCh38
NC_000007.13:g.117267667T>G , CM000669.1:g.117267667T>G GRCh37
NC_000007.12:g.117054903T>G NCBI36
NG_016465.4:g.166830T>G , LRG_663:g.166830T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3517+43T>G ENSP00000497673.2:n.3517+43T>G
ENST00000647978.2:c.*3274T>G ENSP00000497658.1:n.*3274T>G
ENST00000649781.2:c.3377T>G ENSP00000497203.1:p.Leu1126Arg
ENST00000685018.2:c.3560T>G ENSP00000510194.2:p.Leu1187Arg
ENST00000687278.2:c.*213T>G ENSP00000509593.2:n.*213T>G
ENST00000699585.1:c.3517+43T>G ENSP00000514456.1:n.3517+43T>G
ENST00000699598.1:c.3560T>G ENSP00000514467.1:p.Leu1187Arg
ENST00000699599.1:c.3560T>G ENSP00000514468.1:p.Leu1187Arg
ENST00000699600.1:c.*221T>G ENSP00000514469.1:n.*221T>G
ENST00000699601.1:c.*1935T>G ENSP00000514470.1:n.*1935T>G
ENST00000699602.1:c.3554T>G ENSP00000514471.1:p.Leu1185Arg
ENST00000699604.1:c.*3384T>G ENSP00000514472.1:n.*3384T>G
ENST00000699605.1:c.3134T>G ENSP00000514473.1:p.Leu1045Arg
ENST00000685018.1:c.308T>G ENSP00000510194.1:p.Leu103Arg
ENST00000687278.1:c.1347T>G ENSP00000509593.1:n.1347T>G
ENST00000689011.1:c.142T>G
ENST00000003084.11:c.3560T>G MANE Select ENSP00000003084.6:p.Leu1187Arg
ENST00000647720.1:c.1167+43T>G
ENST00000648260.1:c.2342T>G ENSP00000497957.1:p.Leu781Arg
ENST00000649406.1:c.3377T>G ENSP00000497965.1:p.Leu1126Arg
ENST00000649781.1:c.3377T>G ENSP00000497203.1:p.Leu1126Arg
ENST00000003084.10:c.3560T>G ENSP00000003084.6:p.Leu1187Arg
ENST00000426809.5:c.3470T>G ENSP00000389119.1:p.Leu1157Arg
ENST00000468795.1:c.385T>G
NM_000492.3:c.3560T>G , LRG_663t1:c.3560T>G NP_000483.3:p.Leu1187Arg
XM_011515751.1:c.3650T>G XP_011514053.1:p.Leu1217Arg
XM_011515752.1:c.3650T>G XP_011514054.1:p.Leu1217Arg
XM_011515753.1:c.3317T>G XP_011514055.1:p.Leu1106Arg
XM_011515754.1:c.3317T>G XP_011514056.1:p.Leu1106Arg
NM_000492.4:c.3560T>G MANE Select NP_000483.3:p.Leu1187Arg