Canonical Allele Identifier: CA1737343833
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479351T= , CM000669.2:g.117479351T= GRCh38
NC_000007.13:g.117119405T= , CM000669.1:g.117119405T= GRCh37
NC_000007.12:g.116906641T= NCBI36
NG_016465.4:g.18568T= , LRG_663:g.18568T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-424+6T= ENSP00000417012.1:n.-424+6T=
ENST00000673785.1:c.-406+13520T= ENSP00000501235.1:n.-406+13520T=
ENST00000446805.1:c.-424+6T= ENSP00000417012.1:n.-424+6T=
ENST00000546407.1:n.166+3543T=
XM_011515751.1:c.143+6T= XP_011514053.1:n.143+6T=
XM_011515752.1:c.143+6T= XP_011514054.1:n.143+6T=
XM_011515753.1:c.-424+6T= XP_011514055.1:n.-424+6T=
XM_011515754.1:c.-752+6T= XP_011514056.1:n.-752+6T=