Canonical Allele Identifier: CA1737343969
Gene: CFTR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479516G= , CM000669.2:g.117479516G= GRCh38
NC_000007.13:g.117119570G= , CM000669.1:g.117119570G= GRCh37
NC_000007.12:g.116906806G= NCBI36
NG_016465.4:g.18733G= , LRG_663:g.18733G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-369G= ENSP00000417012.1:n.-369G=
ENST00000673785.1:c.-406+13685G= ENSP00000501235.1:n.-406+13685G=
ENST00000446805.1:c.-369G= ENSP00000417012.1:n.-369G=
ENST00000546407.1:n.166+3708G=
XM_011515751.1:c.143+171G= XP_011514053.1:n.143+171G=
XM_011515752.1:c.143+171G= XP_011514054.1:n.143+171G=
XM_011515753.1:c.-369G= XP_011514055.1:n.-369G=
XM_011515754.1:c.-697G= XP_011514056.1:n.-697G=
Search 100 bp 5'
Search 100 bp 3'