Canonical Allele Identifier: CA368993543
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614669A>G , CM000669.2:g.117614669A>G GRCh38
NC_000007.13:g.117254723A>G , CM000669.1:g.117254723A>G GRCh37
NC_000007.12:g.117041959A>G NCBI36
NG_016465.4:g.153886A>G , LRG_663:g.153886A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3424A>G ENSP00000497673.2:p.Thr1142Ala
ENST00000647978.2:c.*3138A>G ENSP00000497658.1:n.*3138A>G
ENST00000649781.2:c.3241A>G ENSP00000497203.1:p.Thr1081Ala
ENST00000685018.2:c.3424A>G ENSP00000510194.2:p.Thr1142Ala
ENST00000687278.2:c.3424A>G ENSP00000509593.2:p.Thr1142Ala
ENST00000699585.1:c.3424A>G ENSP00000514456.1:p.Thr1142Ala
ENST00000699598.1:c.3424A>G ENSP00000514467.1:p.Thr1142Ala
ENST00000699599.1:c.3424A>G ENSP00000514468.1:p.Thr1142Ala
ENST00000699600.1:c.3424A>G ENSP00000514469.1:p.Thr1142Ala
ENST00000699601.1:c.*1799A>G ENSP00000514470.1:n.*1799A>G
ENST00000699602.1:c.3418A>G ENSP00000514471.1:p.Thr1140Ala
ENST00000699604.1:c.*3248A>G ENSP00000514472.1:n.*3248A>G
ENST00000699605.1:c.2998A>G ENSP00000514473.1:p.Thr1000Ala
ENST00000685018.1:c.172A>G ENSP00000510194.1:p.Thr58Ala
ENST00000687278.1:c.1015A>G ENSP00000509593.1:p.Thr339Ala
ENST00000689011.1:c.6A>G
ENST00000003084.11:c.3424A>G MANE Select ENSP00000003084.6:p.Thr1142Ala
ENST00000647720.1:c.1074A>G
ENST00000648260.1:c.2206A>G ENSP00000497957.1:p.Thr736Ala
ENST00000649406.1:c.3241A>G ENSP00000497965.1:p.Thr1081Ala
ENST00000649781.1:c.3241A>G ENSP00000497203.1:p.Thr1081Ala
ENST00000003084.10:c.3424A>G ENSP00000003084.6:p.Thr1142Ala
ENST00000426809.5:c.3334A>G ENSP00000389119.1:p.Thr1112Ala
ENST00000468795.1:c.249A>G
NM_000492.3:c.3424A>G , LRG_663t1:c.3424A>G NP_000483.3:p.Thr1142Ala
XM_011515751.1:c.3514A>G XP_011514053.1:p.Thr1172Ala
XM_011515752.1:c.3514A>G XP_011514054.1:p.Thr1172Ala
XM_011515753.1:c.3181A>G XP_011514055.1:p.Thr1061Ala
XM_011515754.1:c.3181A>G XP_011514056.1:p.Thr1061Ala
NM_000492.4:c.3424A>G MANE Select NP_000483.3:p.Thr1142Ala