Canonical Allele Identifier: CA1737398662
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627640C= , CM000669.2:g.117627640C= GRCh38
NC_000007.13:g.117267694C= , CM000669.1:g.117267694C= GRCh37
NC_000007.12:g.117054930C= NCBI36
NG_016465.4:g.166857C= , LRG_663:g.166857C=

Transcript Alleles

HGVS Amino-acid Change
NM_000492.4:c.3587C= MANE Select NP_000483.3:p.Ser1196=
ENST00000003084.11:c.3587C= MANE Select ENSP00000003084.6:p.Ser1196=
NM_000492.3:c.3587C= , LRG_663t1:c.3587C= NP_000483.3:p.Ser1196=
ENST00000003084.10:c.3587C= ENSP00000003084.6:p.Ser1196=
ENST00000426809.5:c.3497C= ENSP00000389119.1:p.Ser1166=
ENST00000468795.1:c.412C=
ENST00000647720.1:c.1167+70C=
ENST00000647720.2:c.3517+70C= ENSP00000497673.2:n.3517+70C=
ENST00000647978.2:c.*3301C= ENSP00000497658.1:n.*3301C=
ENST00000648260.1:c.2369C= ENSP00000497957.1:p.Ser790=
ENST00000649406.1:c.3404C= ENSP00000497965.1:p.Ser1135=
ENST00000649781.1:c.3404C= ENSP00000497203.1:p.Ser1135=
ENST00000649781.2:c.3404C= ENSP00000497203.1:p.Ser1135=
ENST00000685018.1:c.335C= ENSP00000510194.1:p.Ser112=
ENST00000685018.2:c.3587C= ENSP00000510194.2:p.Ser1196=
ENST00000687278.1:c.1374C= ENSP00000509593.1:n.1374C=
ENST00000687278.2:c.*240C= ENSP00000509593.2:n.*240C=
ENST00000689011.1:c.169C=
ENST00000699585.1:c.3517+70C= ENSP00000514456.1:n.3517+70C=
ENST00000699598.1:c.3587C= ENSP00000514467.1:p.Ser1196=
ENST00000699599.1:c.3587C= ENSP00000514468.1:p.Ser1196=
ENST00000699600.1:c.*248C= ENSP00000514469.1:n.*248C=
ENST00000699601.1:c.*1962C= ENSP00000514470.1:n.*1962C=
ENST00000699602.1:c.3581C= ENSP00000514471.1:p.Ser1194=
ENST00000699604.1:c.*3411C= ENSP00000514472.1:n.*3411C=
ENST00000699605.1:c.3161C= ENSP00000514473.1:p.Ser1054=
XM_011515751.1:c.3677C= XP_011514053.1:p.Ser1226=
XM_011515752.1:c.3677C= XP_011514054.1:p.Ser1226=
XM_011515753.1:c.3344C= XP_011514055.1:p.Ser1115=
XM_011515754.1:c.3344C= XP_011514056.1:p.Ser1115=