Canonical Allele Identifier: CA1737343795
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479311G= , CM000669.2:g.117479311G= GRCh38
NC_000007.13:g.117119365G= , CM000669.1:g.117119365G= GRCh37
NC_000007.12:g.116906601G= NCBI36
NG_016465.4:g.18528G= , LRG_663:g.18528G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-458G= ENSP00000417012.1:n.-458G=
ENST00000673785.1:c.-406+13480G= ENSP00000501235.1:n.-406+13480G=
ENST00000446805.1:c.-458G= ENSP00000417012.1:n.-458G=
ENST00000546407.1:n.166+3503G=
XM_011515751.1:c.109G= XP_011514053.1:p.Gly37=
XM_011515752.1:c.109G= XP_011514054.1:p.Gly37=
XM_011515753.1:c.-458G= XP_011514055.1:n.-458G=
XM_011515754.1:c.-786G= XP_011514056.1:n.-786G=