Canonical Allele Identifier: CA1737343700
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479184G= , CM000669.2:g.117479184G= GRCh38
NC_000007.13:g.117119238G= , CM000669.1:g.117119238G= GRCh37
NC_000007.12:g.116906474G= NCBI36
NG_016465.4:g.18401G= , LRG_663:g.18401G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-60G= ENSP00000417012.1:n.-525-60G=
ENST00000673785.1:c.-406+13353G= ENSP00000501235.1:n.-406+13353G=
ENST00000546407.1:n.166+3376G=
XM_011515751.1:c.42-60G= XP_011514053.1:n.42-60G=
XM_011515752.1:c.42-60G= XP_011514054.1:n.42-60G=
XM_011515754.1:c.-913G= XP_011514056.1:n.-913G=