Canonical Allele Identifier: CA1737344371
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479916A= , CM000669.2:g.117479916A= GRCh38
NC_000007.13:g.117119970A= , CM000669.1:g.117119970A= GRCh37
NC_000007.12:g.116907206A= NCBI36
NG_016465.4:g.19133A= , LRG_663:g.19133A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+222A= ENSP00000417012.1:n.-191+222A=
ENST00000673785.1:c.-406+14085A= ENSP00000501235.1:n.-406+14085A=
ENST00000446805.1:c.-191+222A= ENSP00000417012.1:n.-191+222A=
ENST00000546407.1:n.166+4108A=
XM_011515751.1:c.143+571A= XP_011514053.1:n.143+571A=
XM_011515752.1:c.143+571A= XP_011514054.1:n.143+571A=
XM_011515753.1:c.-191+222A= XP_011514055.1:n.-191+222A=
XM_011515754.1:c.-519+222A= XP_011514056.1:n.-519+222A=