Canonical Allele Identifier: CA325802

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1535894
• ClinVar RCV Id: RCV002090157
• dbSNP Id: rs397507564
• gnomAD v2: 7-117119258-TCTC-T
• gnomAD v3: 7-117479204-TCTC-T
• gnomAD v4: 7-117479204-TCTC-T
• MyVariant Identifiers: chr7:g.117119262_117119264del (hg19) ; chr7:g.117119259_117119261del (hg19) ; chr7:g.117479208_117479210del (hg38) ; chr7:g.117479205_117479207del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479208_117479210del , CM000669.2:g.117479208_117479210del	GRCh38
NC_000007.13:g.117119262_117119264del , CM000669.1:g.117119262_117119264del	GRCh37
NC_000007.12:g.116906498_116906500del	NCBI36
NG_016465.4:g.18425_18427del , LRG_663:g.18425_18427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-36_-525-34del	ENSP00000417012.1:n.-525-36_-525-34del
ENST00000673785.1:c.-406+13377_-406+13379del	ENSP00000501235.1:n.-406+13377_-406+13379del
ENST00000546407.1:n.166+3400_166+3402del
XM_011515751.1:c.42-36_42-34del	XP_011514053.1:n.42-36_42-34del
XM_011515752.1:c.42-36_42-34del	XP_011514054.1:n.42-36_42-34del
XM_011515754.1:c.-889_-887del	XP_011514056.1:n.-889_-887del