Canonical Allele Identifier: CA1737343676

Gene: CFTR

Linked Data

• dbSNP Id: rs1797940195

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479132_117479133dup , CM000669.2:g.117479132_117479133dup	GRCh38
NC_000007.13:g.117119186_117119187dup , CM000669.1:g.117119186_117119187dup	GRCh37
NC_000007.12:g.116906422_116906423dup	NCBI36
NG_016465.4:g.18349_18350dup , LRG_663:g.18349_18350dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-112_-525-111dup	ENSP00000417012.1:n.-525-112_-525-111dup
ENST00000673785.1:c.-406+13301_-406+13302dup	ENSP00000501235.1:n.-406+13301_-406+13302dup
ENST00000546407.1:n.166+3324_166+3325dup
XM_011515751.1:c.42-112_42-111dup	XP_011514053.1:n.42-112_42-111dup
XM_011515752.1:c.42-112_42-111dup	XP_011514054.1:n.42-112_42-111dup
XM_011515754.1:c.-965_-964dup	XP_011514056.1:n.-965_-964dup