Canonical Allele Identifier: CA1737343616
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479003A= , CM000669.2:g.117479003A= GRCh38
NC_000007.13:g.117119057A= , CM000669.1:g.117119057A= GRCh37
NC_000007.12:g.116906293A= NCBI36
NG_016465.4:g.18220A= , LRG_663:g.18220A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-241A= ENSP00000417012.1:n.-525-241A=
ENST00000673785.1:c.-406+13172A= ENSP00000501235.1:n.-406+13172A=
ENST00000546407.1:n.166+3195A=
XM_011515751.1:c.42-241A= XP_011514053.1:n.42-241A=
XM_011515752.1:c.42-241A= XP_011514054.1:n.42-241A=
XM_011515754.1:c.-1094A= XP_011514056.1:n.-1094A=