Canonical Allele Identifier: CA1737344035
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479589G= , CM000669.2:g.117479589G= GRCh38
NC_000007.13:g.117119643G= , CM000669.1:g.117119643G= GRCh37
NC_000007.12:g.116906879G= NCBI36
NG_016465.4:g.18806G= , LRG_663:g.18806G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-296G= ENSP00000417012.1:n.-296G=
ENST00000673785.1:c.-406+13758G= ENSP00000501235.1:n.-406+13758G=
ENST00000446805.1:c.-296G= ENSP00000417012.1:n.-296G=
ENST00000546407.1:n.166+3781G=
XM_011515751.1:c.143+244G= XP_011514053.1:n.143+244G=
XM_011515752.1:c.143+244G= XP_011514054.1:n.143+244G=
XM_011515753.1:c.-296G= XP_011514055.1:n.-296G=
XM_011515754.1:c.-624G= XP_011514056.1:n.-624G=