Canonical Allele Identifier: CA1737343703
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479191A= , CM000669.2:g.117479191A= GRCh38
NC_000007.13:g.117119245A= , CM000669.1:g.117119245A= GRCh37
NC_000007.12:g.116906481A= NCBI36
NG_016465.4:g.18408A= , LRG_663:g.18408A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-53A= ENSP00000417012.1:n.-525-53A=
ENST00000673785.1:c.-406+13360A= ENSP00000501235.1:n.-406+13360A=
ENST00000546407.1:n.166+3383A=
XM_011515751.1:c.42-53A= XP_011514053.1:n.42-53A=
XM_011515752.1:c.42-53A= XP_011514054.1:n.42-53A=
XM_011515754.1:c.-906A= XP_011514056.1:n.-906A=