Canonical Allele Identifier: CA1737343760
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479274G= , CM000669.2:g.117479274G= GRCh38
NC_000007.13:g.117119328G= , CM000669.1:g.117119328G= GRCh37
NC_000007.12:g.116906564G= NCBI36
NG_016465.4:g.18491G= , LRG_663:g.18491G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-495G= ENSP00000417012.1:n.-495G=
ENST00000673785.1:c.-406+13443G= ENSP00000501235.1:n.-406+13443G=
ENST00000546407.1:n.166+3466G=
XM_011515751.1:c.72G= XP_011514053.1:p.Leu24=
XM_011515752.1:c.72G= XP_011514054.1:p.Leu24=
XM_011515754.1:c.-823G= XP_011514056.1:n.-823G=