Canonical Allele Identifier: CA1106299847

Gene: CFTR

Linked Data

• dbSNP Id: rs1797938326
• gnomAD v3: 7-117479051-CTG-C
• gnomAD v4: 7-117479051-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479052_117479053del , CM000669.2:g.117479052_117479053del	GRCh38
NC_000007.13:g.117119106_117119107del , CM000669.1:g.117119106_117119107del	GRCh37
NC_000007.12:g.116906342_116906343del	NCBI36
NG_016465.4:g.18269_18270del , LRG_663:g.18269_18270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-192_-525-191del	ENSP00000417012.1:n.-525-192_-525-191del
ENST00000673785.1:c.-406+13221_-406+13222del	ENSP00000501235.1:n.-406+13221_-406+13222del
ENST00000546407.1:n.166+3244_166+3245del
XM_011515751.1:c.42-192_42-191del	XP_011514053.1:n.42-192_42-191del
XM_011515752.1:c.42-192_42-191del	XP_011514054.1:n.42-192_42-191del
XM_011515754.1:c.-1045_-1044del	XP_011514056.1:n.-1045_-1044del