Canonical Allele Identifier: CA1737343761
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479281A= , CM000669.2:g.117479281A= GRCh38
NC_000007.13:g.117119335A= , CM000669.1:g.117119335A= GRCh37
NC_000007.12:g.116906571A= NCBI36
NG_016465.4:g.18498A= , LRG_663:g.18498A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-488A= ENSP00000417012.1:n.-488A=
ENST00000673785.1:c.-406+13450A= ENSP00000501235.1:n.-406+13450A=
ENST00000546407.1:n.166+3473A=
XM_011515751.1:c.79A= XP_011514053.1:p.Thr27=
XM_011515752.1:c.79A= XP_011514054.1:p.Thr27=
XM_011515754.1:c.-816A= XP_011514056.1:n.-816A=