Canonical Allele Identifier: CA832112149

Gene: CFTR

Linked Data

• dbSNP Id: rs1444400367
• MyVariant Identifiers: chr7:g.117118884del (hg19) ; chr7:g.117478830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478832del , CM000669.2:g.117478832del	GRCh38
NC_000007.13:g.117118886del , CM000669.1:g.117118886del	GRCh37
NC_000007.12:g.116906122del	NCBI36
NG_016465.4:g.18049del , LRG_663:g.18049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-526+410del	ENSP00000417012.1:n.-526+410del
ENST00000673785.1:c.-406+13001del	ENSP00000501235.1:n.-406+13001del
ENST00000546407.1:n.166+3024del
XM_011515751.1:c.41+410del	XP_011514053.1:n.41+410del
XM_011515752.1:c.41+410del	XP_011514054.1:n.41+410del
XM_011515754.1:c.-1265del	XP_011514056.1:n.-1265del