Canonical Allele Identifier: CA832112291

Gene: CFTR

Linked Data

• dbSNP Id: rs1423539074
• MyVariant Identifiers: chr7:g.117119128del (hg19) ; chr7:g.117479074del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479076del , CM000669.2:g.117479076del	GRCh38
NC_000007.13:g.117119130del , CM000669.1:g.117119130del	GRCh37
NC_000007.12:g.116906366del	NCBI36
NG_016465.4:g.18293del , LRG_663:g.18293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-168del	ENSP00000417012.1:n.-525-168del
ENST00000673785.1:c.-406+13245del	ENSP00000501235.1:n.-406+13245del
ENST00000546407.1:n.166+3268del
XM_011515751.1:c.42-168del	XP_011514053.1:n.42-168del
XM_011515752.1:c.42-168del	XP_011514054.1:n.42-168del
XM_011515754.1:c.-1021del	XP_011514056.1:n.-1021del