Canonical Allele Identifier: CA1737343802
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479318T= , CM000669.2:g.117479318T= GRCh38
NC_000007.13:g.117119372T= , CM000669.1:g.117119372T= GRCh37
NC_000007.12:g.116906608T= NCBI36
NG_016465.4:g.18535T= , LRG_663:g.18535T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-451T= ENSP00000417012.1:n.-451T=
ENST00000673785.1:c.-406+13487T= ENSP00000501235.1:n.-406+13487T=
ENST00000446805.1:c.-451T= ENSP00000417012.1:n.-451T=
ENST00000546407.1:n.166+3510T=
XM_011515751.1:c.116T= XP_011514053.1:p.Phe39=
XM_011515752.1:c.116T= XP_011514054.1:p.Phe39=
XM_011515753.1:c.-451T= XP_011514055.1:n.-451T=
XM_011515754.1:c.-779T= XP_011514056.1:n.-779T=