Canonical Allele Identifier: CA1737344454

Gene: CFTR

Linked Data

• dbSNP Id: rs1797973090
• gnomAD v4: 7-117479977-G-GAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479979_117479980dup , CM000669.2:g.117479979_117479980dup	GRCh38
NC_000007.13:g.117120033_117120034dup , CM000669.1:g.117120033_117120034dup	GRCh37
NC_000007.12:g.116907269_116907270dup	NCBI36
NG_016465.4:g.19196_19197dup , LRG_663:g.19196_19197dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+285_-191+286dup	ENSP00000417012.1:n.-191+285_-191+286dup
ENST00000673785.1:c.-406+14148_-406+14149dup	ENSP00000501235.1:n.-406+14148_-406+14149dup
ENST00000003084.10:c.-116_-115dup	ENSP00000003084.6:n.-116_-115dup
ENST00000446805.1:c.-191+285_-191+286dup	ENSP00000417012.1:n.-191+285_-191+286dup
ENST00000546407.1:n.166+4171_166+4172dup
NM_000492.3:c.-116_-115dup , LRG_663t1:c.-116_-115dup	NP_000483.3:n.-116_-115dup
XM_011515751.1:c.143+634_143+635dup	XP_011514053.1:n.143+634_143+635dup
XM_011515752.1:c.143+634_143+635dup	XP_011514054.1:n.143+634_143+635dup
XM_011515753.1:c.-191+285_-191+286dup	XP_011514055.1:n.-191+285_-191+286dup
XM_011515754.1:c.-518-169_-518-168dup	XP_011514056.1:n.-518-169_-518-168dup