Canonical Allele Identifier: CA832112111

Gene: CFTR

Linked Data

• dbSNP Id: rs1416130919
• MyVariant Identifiers: chr7:g.117118779del (hg19) ; chr7:g.117478725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478725del , CM000669.2:g.117478725del	GRCh38
NC_000007.13:g.117118779del , CM000669.1:g.117118779del	GRCh37
NC_000007.12:g.116906015del	NCBI36
NG_016465.4:g.17942del , LRG_663:g.17942del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-526+303del	ENSP00000417012.1:n.-526+303del
ENST00000673785.1:c.-406+12894del	ENSP00000501235.1:n.-406+12894del
ENST00000546407.1:n.166+2917del
XM_011515751.1:c.41+303del	XP_011514053.1:n.41+303del
XM_011515752.1:c.41+303del	XP_011514054.1:n.41+303del
XM_011515754.1:c.-1372del	XP_011514056.1:n.-1372del