Canonical Allele Identifier: CA1737408442
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117667982C= , CM000669.2:g.117667982C= GRCh38
NC_000007.13:g.117308036C= , CM000669.1:g.117308036C= GRCh37
NC_000007.12:g.117095272C= NCBI36
NG_016465.4:g.207199C= , LRG_663:g.207199C=

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*1526C= ENSP00000497673.2:n.*1526C=
ENST00000647978.2:c.*5031C= ENSP00000497658.1:n.*5031C=
ENST00000649781.2:c.*874C= ENSP00000497203.1:n.*874C=
ENST00000685018.2:c.*1530C= ENSP00000510194.2:n.*1530C=
ENST00000687278.2:c.*1051+225C= ENSP00000509593.2:n.*1051+225C=
ENST00000699585.1:c.*1786C= ENSP00000514456.1:n.*1786C=
ENST00000699598.1:c.*454+225C= ENSP00000514467.1:n.*454+225C=
ENST00000699599.1:c.*961+225C= ENSP00000514468.1:n.*961+225C=
ENST00000699600.1:c.*1059+225C= ENSP00000514469.1:n.*1059+225C=
ENST00000699601.1:c.*3692C= ENSP00000514470.1:n.*3692C=
ENST00000699602.1:c.*874C= ENSP00000514471.1:n.*874C=
ENST00000699604.1:c.*5141C= ENSP00000514472.1:n.*5141C=
ENST00000699605.1:c.*874C= ENSP00000514473.1:n.*874C=
ENST00000699606.1:n.4828C=
ENST00000685018.1:c.2181C= ENSP00000510194.1:n.2181C=
ENST00000687278.1:c.2185+225C= ENSP00000509593.1:n.2185+225C=
ENST00000689011.1:c.2159C=
ENST00000003084.11:c.*874C= MANE Select ENSP00000003084.6:n.*874C=
ENST00000647720.1:c.2767C=
ENST00000003084.10:c.*874C= ENSP00000003084.6:n.*874C=
ENST00000600166.1:c.368+2418C=
NM_000492.3:c.*874C= , LRG_663t1:c.*874C= NP_000483.3:n.*874C=
XM_011515751.1:c.*874C= XP_011514053.1:n.*874C=
XM_011515753.1:c.*874C= XP_011514055.1:n.*874C=
XM_011515754.1:c.*874C= XP_011514056.1:n.*874C=
NM_000492.4:c.*874C= MANE Select NP_000483.3:n.*874C=