Canonical Allele Identifier: CA577211690

Gene: CFTR

Linked Data

• dbSNP Id: rs1212065877
• gnomAD v2: 7-117119613-CGAA-C
• gnomAD v3: 7-117479559-CGAA-C
• gnomAD v4: 7-117479559-CGAA-C
• MyVariant Identifiers: chr7:g.117119614_117119616del (hg19) ; chr7:g.117479560_117479562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479561_117479563del , CM000669.2:g.117479561_117479563del	GRCh38
NC_000007.13:g.117119615_117119617del , CM000669.1:g.117119615_117119617del	GRCh37
NC_000007.12:g.116906851_116906853del	NCBI36
NG_016465.4:g.18778_18780del , LRG_663:g.18778_18780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-324_-322del	ENSP00000417012.1:n.-324_-322del
ENST00000673785.1:c.-406+13730_-406+13732del	ENSP00000501235.1:n.-406+13730_-406+13732del
ENST00000446805.1:c.-324_-322del	ENSP00000417012.1:n.-324_-322del
ENST00000546407.1:n.166+3753_166+3755del
XM_011515751.1:c.143+216_143+218del	XP_011514053.1:n.143+216_143+218del
XM_011515752.1:c.143+216_143+218del	XP_011514054.1:n.143+216_143+218del
XM_011515753.1:c.-324_-322del	XP_011514055.1:n.-324_-322del
XM_011515754.1:c.-652_-650del	XP_011514056.1:n.-652_-650del