Canonical Allele Identifier: CA1737344349
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479901A= , CM000669.2:g.117479901A= GRCh38
NC_000007.13:g.117119955A= , CM000669.1:g.117119955A= GRCh37
NC_000007.12:g.116907191A= NCBI36
NG_016465.4:g.19118A= , LRG_663:g.19118A=

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-191+207A= ENSP00000417012.1:n.-191+207A=
ENST00000673785.1:c.-406+14070A= ENSP00000501235.1:n.-406+14070A=
ENST00000446805.1:c.-191+207A= ENSP00000417012.1:n.-191+207A=
ENST00000546407.1:n.166+4093A=
XM_011515751.1:c.143+556A= XP_011514053.1:n.143+556A=
XM_011515752.1:c.143+556A= XP_011514054.1:n.143+556A=
XM_011515753.1:c.-191+207A= XP_011514055.1:n.-191+207A=
XM_011515754.1:c.-519+207A= XP_011514056.1:n.-519+207A=