Canonical Allele Identifier: CA368993636
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614687A>T , CM000669.2:g.117614687A>T GRCh38
NC_000007.13:g.117254741A>T , CM000669.1:g.117254741A>T GRCh37
NC_000007.12:g.117041977A>T NCBI36
NG_016465.4:g.153904A>T , LRG_663:g.153904A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3442A>T ENSP00000497673.2:p.Asn1148Tyr
ENST00000647978.2:c.*3156A>T ENSP00000497658.1:n.*3156A>T
ENST00000649781.2:c.3259A>T ENSP00000497203.1:p.Asn1087Tyr
ENST00000685018.2:c.3442A>T ENSP00000510194.2:p.Asn1148Tyr
ENST00000687278.2:c.3442A>T ENSP00000509593.2:p.Asn1148Tyr
ENST00000699585.1:c.3442A>T ENSP00000514456.1:p.Asn1148Tyr
ENST00000699598.1:c.3442A>T ENSP00000514467.1:p.Asn1148Tyr
ENST00000699599.1:c.3442A>T ENSP00000514468.1:p.Asn1148Tyr
ENST00000699600.1:c.3442A>T ENSP00000514469.1:p.Asn1148Tyr
ENST00000699601.1:c.*1817A>T ENSP00000514470.1:n.*1817A>T
ENST00000699602.1:c.3436A>T ENSP00000514471.1:p.Asn1146Tyr
ENST00000699604.1:c.*3266A>T ENSP00000514472.1:n.*3266A>T
ENST00000699605.1:c.3016A>T ENSP00000514473.1:p.Asn1006Tyr
ENST00000685018.1:c.190A>T ENSP00000510194.1:p.Asn64Tyr
ENST00000687278.1:c.1033A>T ENSP00000509593.1:p.Asn345Tyr
ENST00000689011.1:c.24A>T
ENST00000003084.11:c.3442A>T MANE Select ENSP00000003084.6:p.Asn1148Tyr
ENST00000647720.1:c.1092A>T
ENST00000648260.1:c.2224A>T ENSP00000497957.1:p.Asn742Tyr
ENST00000649406.1:c.3259A>T ENSP00000497965.1:p.Asn1087Tyr
ENST00000649781.1:c.3259A>T ENSP00000497203.1:p.Asn1087Tyr
ENST00000003084.10:c.3442A>T ENSP00000003084.6:p.Asn1148Tyr
ENST00000426809.5:c.3352A>T ENSP00000389119.1:p.Asn1118Tyr
ENST00000468795.1:c.267A>T
NM_000492.3:c.3442A>T , LRG_663t1:c.3442A>T NP_000483.3:p.Asn1148Tyr
XM_011515751.1:c.3532A>T XP_011514053.1:p.Asn1178Tyr
XM_011515752.1:c.3532A>T XP_011514054.1:p.Asn1178Tyr
XM_011515753.1:c.3199A>T XP_011514055.1:p.Asn1067Tyr
XM_011515754.1:c.3199A>T XP_011514056.1:p.Asn1067Tyr
NM_000492.4:c.3442A>T MANE Select NP_000483.3:p.Asn1148Tyr