Canonical Allele Identifier: CA1737344028
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479585G= , CM000669.2:g.117479585G= GRCh38
NC_000007.13:g.117119639G= , CM000669.1:g.117119639G= GRCh37
NC_000007.12:g.116906875G= NCBI36
NG_016465.4:g.18802G= , LRG_663:g.18802G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-300G= ENSP00000417012.1:n.-300G=
ENST00000673785.1:c.-406+13754G= ENSP00000501235.1:n.-406+13754G=
ENST00000446805.1:c.-300G= ENSP00000417012.1:n.-300G=
ENST00000546407.1:n.166+3777G=
XM_011515751.1:c.143+240G= XP_011514053.1:n.143+240G=
XM_011515752.1:c.143+240G= XP_011514054.1:n.143+240G=
XM_011515753.1:c.-300G= XP_011514055.1:n.-300G=
XM_011515754.1:c.-628G= XP_011514056.1:n.-628G=