Canonical Allele Identifier: CA368983742
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1793360079

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117665539C>A , CM000669.2:g.117665539C>A GRCh38
NC_000007.13:g.117305593C>A , CM000669.1:g.117305593C>A GRCh37
NC_000007.12:g.117092829C>A NCBI36
NG_016465.4:g.204756C>A , LRG_663:g.204756C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*426C>A ENSP00000497673.2:n.*426C>A
ENST00000647978.2:c.*3931C>A ENSP00000497658.1:n.*3931C>A
ENST00000649781.2:c.4034C>A ENSP00000497203.1:p.Ala1345Glu
ENST00000685018.2:c.*430C>A ENSP00000510194.2:n.*430C>A
ENST00000687278.2:c.*870C>A ENSP00000509593.2:n.*870C>A
ENST00000699585.1:c.*426C>A ENSP00000514456.1:n.*426C>A
ENST00000699598.1:c.4217C>A ENSP00000514467.1:p.Ala1406Glu
ENST00000699599.1:c.*430C>A ENSP00000514468.1:n.*430C>A
ENST00000699600.1:c.*878C>A ENSP00000514469.1:n.*878C>A
ENST00000699601.1:c.*2592C>A ENSP00000514470.1:n.*2592C>A
ENST00000699602.1:c.4211C>A ENSP00000514471.1:p.Ala1404Glu
ENST00000699604.1:c.*4041C>A ENSP00000514472.1:n.*4041C>A
ENST00000699605.1:c.3791C>A ENSP00000514473.1:p.Ala1264Glu
ENST00000699606.1:n.2385C>A
ENST00000685018.1:c.1081C>A ENSP00000510194.1:n.1081C>A
ENST00000687278.1:c.2004C>A ENSP00000509593.1:n.2004C>A
ENST00000689011.1:c.799C>A
ENST00000003084.11:c.4217C>A MANE Select ENSP00000003084.6:p.Ala1406Glu
ENST00000647720.1:c.1667C>A
ENST00000649781.1:c.4034C>A ENSP00000497203.1:p.Ala1345Glu
ENST00000003084.10:c.4217C>A ENSP00000003084.6:p.Ala1406Glu
ENST00000426809.5:c.4127C>A ENSP00000389119.1:p.Ala1376Glu
ENST00000600166.1:c.343C>A
NM_000492.3:c.4217C>A , LRG_663t1:c.4217C>A NP_000483.3:p.Ala1406Glu
XM_011515751.1:c.4307C>A XP_011514053.1:p.Ala1436Glu
XM_011515752.1:c.4307C>A XP_011514054.1:p.Ala1436Glu
XM_011515753.1:c.3974C>A XP_011514055.1:p.Ala1325Glu
XM_011515754.1:c.3974C>A XP_011514056.1:p.Ala1325Glu
NM_000492.4:c.4217C>A MANE Select NP_000483.3:p.Ala1406Glu