Canonical Allele Identifier: CA368996177
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1792670569

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627562C>G , CM000669.2:g.117627562C>G GRCh38
NC_000007.13:g.117267616C>G , CM000669.1:g.117267616C>G GRCh37
NC_000007.12:g.117054852C>G NCBI36
NG_016465.4:g.166779C>G , LRG_663:g.166779C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3509C>G ENSP00000497673.2:p.Pro1170Arg
ENST00000647978.2:c.*3223C>G ENSP00000497658.1:n.*3223C>G
ENST00000649781.2:c.3326C>G ENSP00000497203.1:p.Pro1109Arg
ENST00000685018.2:c.3509C>G ENSP00000510194.2:p.Pro1170Arg
ENST00000687278.2:c.*162C>G ENSP00000509593.2:n.*162C>G
ENST00000699585.1:c.3509C>G ENSP00000514456.1:p.Pro1170Arg
ENST00000699598.1:c.3509C>G ENSP00000514467.1:p.Pro1170Arg
ENST00000699599.1:c.3509C>G ENSP00000514468.1:p.Pro1170Arg
ENST00000699600.1:c.*170C>G ENSP00000514469.1:n.*170C>G
ENST00000699601.1:c.*1884C>G ENSP00000514470.1:n.*1884C>G
ENST00000699602.1:c.3503C>G ENSP00000514471.1:p.Pro1168Arg
ENST00000699604.1:c.*3333C>G ENSP00000514472.1:n.*3333C>G
ENST00000699605.1:c.3083C>G ENSP00000514473.1:p.Pro1028Arg
ENST00000685018.1:c.257C>G ENSP00000510194.1:p.Pro86Arg
ENST00000687278.1:c.1296C>G ENSP00000509593.1:n.1296C>G
ENST00000689011.1:c.91C>G
ENST00000003084.11:c.3509C>G MANE Select ENSP00000003084.6:p.Pro1170Arg
ENST00000647720.1:c.1159C>G
ENST00000648260.1:c.2291C>G ENSP00000497957.1:p.Pro764Arg
ENST00000649406.1:c.3326C>G ENSP00000497965.1:p.Pro1109Arg
ENST00000649781.1:c.3326C>G ENSP00000497203.1:p.Pro1109Arg
ENST00000003084.10:c.3509C>G ENSP00000003084.6:p.Pro1170Arg
ENST00000426809.5:c.3419C>G ENSP00000389119.1:p.Pro1140Arg
ENST00000468795.1:c.334C>G
NM_000492.3:c.3509C>G , LRG_663t1:c.3509C>G NP_000483.3:p.Pro1170Arg
XM_011515751.1:c.3599C>G XP_011514053.1:p.Pro1200Arg
XM_011515752.1:c.3599C>G XP_011514054.1:p.Pro1200Arg
XM_011515753.1:c.3266C>G XP_011514055.1:p.Pro1089Arg
XM_011515754.1:c.3266C>G XP_011514056.1:p.Pro1089Arg
NM_000492.4:c.3509C>G MANE Select NP_000483.3:p.Pro1170Arg