Canonical Allele Identifier: CA1737344043
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479598C= , CM000669.2:g.117479598C= GRCh38
NC_000007.13:g.117119652C= , CM000669.1:g.117119652C= GRCh37
NC_000007.12:g.116906888C= NCBI36
NG_016465.4:g.18815C= , LRG_663:g.18815C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-287C= ENSP00000417012.1:n.-287C=
ENST00000673785.1:c.-406+13767C= ENSP00000501235.1:n.-406+13767C=
ENST00000446805.1:c.-287C= ENSP00000417012.1:n.-287C=
ENST00000546407.1:n.166+3790C=
XM_011515751.1:c.143+253C= XP_011514053.1:n.143+253C=
XM_011515752.1:c.143+253C= XP_011514054.1:n.143+253C=
XM_011515753.1:c.-287C= XP_011514055.1:n.-287C=
XM_011515754.1:c.-615C= XP_011514056.1:n.-615C=