Canonical Allele Identifier: CA1737344261
Gene: CFTR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479826G= , CM000669.2:g.117479826G= GRCh38
NC_000007.13:g.117119880G= , CM000669.1:g.117119880G= GRCh37
NC_000007.12:g.116907116G= NCBI36
NG_016465.4:g.19043G= , LRG_663:g.19043G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+132G= ENSP00000417012.1:n.-191+132G=
ENST00000673785.1:c.-406+13995G= ENSP00000501235.1:n.-406+13995G=
ENST00000446805.1:c.-191+132G= ENSP00000417012.1:n.-191+132G=
ENST00000546407.1:n.166+4018G=
XM_011515751.1:c.143+481G= XP_011514053.1:n.143+481G=
XM_011515752.1:c.143+481G= XP_011514054.1:n.143+481G=
XM_011515753.1:c.-191+132G= XP_011514055.1:n.-191+132G=
XM_011515754.1:c.-519+132G= XP_011514056.1:n.-519+132G=
Search 100 bp 5'
Search 100 bp 3'