Canonical Allele Identifier: CA1737344158
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479745T= , CM000669.2:g.117479745T= GRCh38
NC_000007.13:g.117119799T= , CM000669.1:g.117119799T= GRCh37
NC_000007.12:g.116907035T= NCBI36
NG_016465.4:g.18962T= , LRG_663:g.18962T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+51T= ENSP00000417012.1:n.-191+51T=
ENST00000673785.1:c.-406+13914T= ENSP00000501235.1:n.-406+13914T=
ENST00000446805.1:c.-191+51T= ENSP00000417012.1:n.-191+51T=
ENST00000546407.1:n.166+3937T=
XM_011515751.1:c.143+400T= XP_011514053.1:n.143+400T=
XM_011515752.1:c.143+400T= XP_011514054.1:n.143+400T=
XM_011515753.1:c.-191+51T= XP_011514055.1:n.-191+51T=
XM_011515754.1:c.-519+51T= XP_011514056.1:n.-519+51T=