Canonical Allele Identifier: CA1737332152
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117540236A= , CM000669.2:g.117540236A= GRCh38
NC_000007.13:g.117180290A= , CM000669.1:g.117180290A= GRCh37
NC_000007.12:g.116967526A= NCBI36
NG_016465.4:g.79453A= , LRG_663:g.79453A=

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1006A= ENSP00000497673.2:p.Ile336=
ENST00000647978.2:c.*903A= ENSP00000497658.1:n.*903A=
ENST00000649781.2:c.1006A= ENSP00000497203.1:p.Ile336=
ENST00000685018.2:c.1006A= ENSP00000510194.2:p.Ile336=
ENST00000687278.2:c.1006A= ENSP00000509593.2:p.Ile336=
ENST00000699585.1:c.1006A= ENSP00000514456.1:p.Ile336=
ENST00000699596.1:c.1006A= ENSP00000514465.1:p.Ile336=
ENST00000699597.1:c.1006A= ENSP00000514466.1:p.Ile336=
ENST00000699598.1:c.1006A= ENSP00000514467.1:p.Ile336=
ENST00000699599.1:c.1006A= ENSP00000514468.1:p.Ile336=
ENST00000699600.1:c.1006A= ENSP00000514469.1:p.Ile336=
ENST00000699601.1:c.1006A= ENSP00000514470.1:p.Ile336=
ENST00000699602.1:c.1006A= ENSP00000514471.1:p.Ile336=
ENST00000699604.1:c.*830A= ENSP00000514472.1:n.*830A=
ENST00000699605.1:c.763A= ENSP00000514473.1:p.Ile255=
ENST00000003084.11:c.1006A= MANE Select ENSP00000003084.6:p.Ile336=
ENST00000647978.1:c.*903A= ENSP00000497658.1:n.*903A=
ENST00000648260.1:c.1006A= ENSP00000497957.1:p.Ile336=
ENST00000649406.1:c.1006A= ENSP00000497965.1:p.Ile336=
ENST00000649781.1:c.1006A= ENSP00000497203.1:p.Ile336=
ENST00000673785.1:c.763A= ENSP00000501235.1:p.Ile255=
ENST00000003084.10:c.1006A= ENSP00000003084.6:p.Ile336=
ENST00000426809.5:c.916A= ENSP00000389119.1:p.Ile306=
NM_000492.3:c.1006A= , LRG_663t1:c.1006A= NP_000483.3:p.Ile336=
XM_011515751.1:c.1096A= XP_011514053.1:p.Ile366=
XM_011515752.1:c.1096A= XP_011514054.1:p.Ile366=
XM_011515753.1:c.763A= XP_011514055.1:p.Ile255=
XM_011515754.1:c.763A= XP_011514056.1:p.Ile255=
NM_000492.4:c.1006A= MANE Select NP_000483.3:p.Ile336=