Canonical Allele Identifier: CA2580076337

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1705870
• ClinVar RCV Id: RCV002284244

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117660798_117670251delinsTAACT , CM000669.2:g.117660798_117670251delinsTAACT	GRCh38
NC_000007.13:g.117300852_117310305delinsTAACT , CM000669.1:g.117300852_117310305delinsTAACT	GRCh37
NC_000007.12:g.117088088_117097541delinsTAACT	NCBI36
NG_016465.4:g.200015_209468delinsTAACT , LRG_663:g.200015_209468delinsTAACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000600166.1:c.90-3890_368+4687delinsTAACT