Canonical Allele Identifier: CA368993368
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614637T>A , CM000669.2:g.117614637T>A GRCh38
NC_000007.13:g.117254691T>A , CM000669.1:g.117254691T>A GRCh37
NC_000007.12:g.117041927T>A NCBI36
NG_016465.4:g.153854T>A , LRG_663:g.153854T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3392T>A ENSP00000497673.2:p.Ile1131Asn
ENST00000647978.2:c.*3106T>A ENSP00000497658.1:n.*3106T>A
ENST00000649781.2:c.3209T>A ENSP00000497203.1:p.Ile1070Asn
ENST00000685018.2:c.3392T>A ENSP00000510194.2:p.Ile1131Asn
ENST00000687278.2:c.3392T>A ENSP00000509593.2:p.Ile1131Asn
ENST00000699585.1:c.3392T>A ENSP00000514456.1:p.Ile1131Asn
ENST00000699598.1:c.3392T>A ENSP00000514467.1:p.Ile1131Asn
ENST00000699599.1:c.3392T>A ENSP00000514468.1:p.Ile1131Asn
ENST00000699600.1:c.3392T>A ENSP00000514469.1:p.Ile1131Asn
ENST00000699601.1:c.*1767T>A ENSP00000514470.1:n.*1767T>A
ENST00000699602.1:c.3386T>A ENSP00000514471.1:p.Ile1129Asn
ENST00000699604.1:c.*3216T>A ENSP00000514472.1:n.*3216T>A
ENST00000699605.1:c.2966T>A ENSP00000514473.1:p.Ile989Asn
ENST00000685018.1:c.140T>A ENSP00000510194.1:p.Ile47Asn
ENST00000687278.1:c.983T>A ENSP00000509593.1:p.Ile328Asn
ENST00000003084.11:c.3392T>A MANE Select ENSP00000003084.6:p.Ile1131Asn
ENST00000647720.1:c.1042T>A
ENST00000648260.1:c.2174T>A ENSP00000497957.1:p.Ile725Asn
ENST00000649406.1:c.3209T>A ENSP00000497965.1:p.Ile1070Asn
ENST00000649781.1:c.3209T>A ENSP00000497203.1:p.Ile1070Asn
ENST00000003084.10:c.3392T>A ENSP00000003084.6:p.Ile1131Asn
ENST00000426809.5:c.3302T>A ENSP00000389119.1:p.Ile1101Asn
ENST00000468795.1:c.217T>A
NM_000492.3:c.3392T>A , LRG_663t1:c.3392T>A NP_000483.3:p.Ile1131Asn
XM_011515751.1:c.3482T>A XP_011514053.1:p.Ile1161Asn
XM_011515752.1:c.3482T>A XP_011514054.1:p.Ile1161Asn
XM_011515753.1:c.3149T>A XP_011514055.1:p.Ile1050Asn
XM_011515754.1:c.3149T>A XP_011514056.1:p.Ile1050Asn
NM_000492.4:c.3392T>A MANE Select NP_000483.3:p.Ile1131Asn