Canonical Allele Identifier: CA832112163

Gene: CFTR

Linked Data

• dbSNP Id: rs1331735525
• gnomAD v3: 7-117478840-ATTAGAGGGTTGG-A
• gnomAD v4: 7-117478840-ATTAGAGGGTTGG-A
• MyVariant Identifiers: chr7:g.117118895_117118906del (hg19) ; chr7:g.117478841_117478852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478841_117478852del , CM000669.2:g.117478841_117478852del	GRCh38
NC_000007.13:g.117118895_117118906del , CM000669.1:g.117118895_117118906del	GRCh37
NC_000007.12:g.116906131_116906142del	NCBI36
NG_016465.4:g.18058_18069del , LRG_663:g.18058_18069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-403_-525-392del	ENSP00000417012.1:n.-525-403_-525-392del
ENST00000673785.1:c.-406+13010_-406+13021del	ENSP00000501235.1:n.-406+13010_-406+13021del
ENST00000546407.1:n.166+3033_166+3044del
XM_011515751.1:c.42-403_42-392del	XP_011514053.1:n.42-403_42-392del
XM_011515752.1:c.42-403_42-392del	XP_011514054.1:n.42-403_42-392del
XM_011515754.1:c.-1256_-1245del	XP_011514056.1:n.-1256_-1245del