Canonical Allele Identifier: CA1737398639
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627595C= , CM000669.2:g.117627595C= GRCh38
NC_000007.13:g.117267649C= , CM000669.1:g.117267649C= GRCh37
NC_000007.12:g.117054885C= NCBI36
NG_016465.4:g.166812C= , LRG_663:g.166812C=

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+25C= ENSP00000497673.2:n.3517+25C=
ENST00000647978.2:c.*3256C= ENSP00000497658.1:n.*3256C=
ENST00000649781.2:c.3359C= ENSP00000497203.1:p.Pro1120=
ENST00000685018.2:c.3542C= ENSP00000510194.2:p.Pro1181=
ENST00000687278.2:c.*195C= ENSP00000509593.2:n.*195C=
ENST00000699585.1:c.3517+25C= ENSP00000514456.1:n.3517+25C=
ENST00000699598.1:c.3542C= ENSP00000514467.1:p.Pro1181=
ENST00000699599.1:c.3542C= ENSP00000514468.1:p.Pro1181=
ENST00000699600.1:c.*203C= ENSP00000514469.1:n.*203C=
ENST00000699601.1:c.*1917C= ENSP00000514470.1:n.*1917C=
ENST00000699602.1:c.3536C= ENSP00000514471.1:p.Pro1179=
ENST00000699604.1:c.*3366C= ENSP00000514472.1:n.*3366C=
ENST00000699605.1:c.3116C= ENSP00000514473.1:p.Pro1039=
ENST00000685018.1:c.290C= ENSP00000510194.1:p.Pro97=
ENST00000687278.1:c.1329C= ENSP00000509593.1:n.1329C=
ENST00000689011.1:c.124C=
ENST00000003084.11:c.3542C= MANE Select ENSP00000003084.6:p.Pro1181=
ENST00000647720.1:c.1167+25C=
ENST00000648260.1:c.2324C= ENSP00000497957.1:p.Pro775=
ENST00000649406.1:c.3359C= ENSP00000497965.1:p.Pro1120=
ENST00000649781.1:c.3359C= ENSP00000497203.1:p.Pro1120=
ENST00000003084.10:c.3542C= ENSP00000003084.6:p.Pro1181=
ENST00000426809.5:c.3452C= ENSP00000389119.1:p.Pro1151=
ENST00000468795.1:c.367C=
NM_000492.3:c.3542C= , LRG_663t1:c.3542C= NP_000483.3:p.Pro1181=
XM_011515751.1:c.3632C= XP_011514053.1:p.Pro1211=
XM_011515752.1:c.3632C= XP_011514054.1:p.Pro1211=
XM_011515753.1:c.3299C= XP_011514055.1:p.Pro1100=
XM_011515754.1:c.3299C= XP_011514056.1:p.Pro1100=
NM_000492.4:c.3542C= MANE Select NP_000483.3:p.Pro1181=