Canonical Allele Identifier: CA577211739

Gene: CFTR

Linked Data

• dbSNP Id: rs1372701833
• gnomAD v2: 7-117119928-AGGCAGCACTC-A
• gnomAD v3: 7-117479874-AGGCAGCACTC-A
• gnomAD v4: 7-117479874-AGGCAGCACTC-A
• MyVariant Identifiers: chr7:g.117119929_117119938del (hg19) ; chr7:g.117479875_117479884del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479878_117479887del , CM000669.2:g.117479878_117479887del	GRCh38
NC_000007.13:g.117119932_117119941del , CM000669.1:g.117119932_117119941del	GRCh37
NC_000007.12:g.116907168_116907177del	NCBI36
NG_016465.4:g.19095_19104del , LRG_663:g.19095_19104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+184_-191+193del	ENSP00000417012.1:n.-191+184_-191+193del
ENST00000673785.1:c.-406+14047_-406+14056del	ENSP00000501235.1:n.-406+14047_-406+14056del
ENST00000446805.1:c.-191+184_-191+193del	ENSP00000417012.1:n.-191+184_-191+193del
ENST00000546407.1:n.166+4070_166+4079del
XM_011515751.1:c.143+533_143+542del	XP_011514053.1:n.143+533_143+542del
XM_011515752.1:c.143+533_143+542del	XP_011514054.1:n.143+533_143+542del
XM_011515753.1:c.-191+184_-191+193del	XP_011514055.1:n.-191+184_-191+193del
XM_011515754.1:c.-519+184_-519+193del	XP_011514056.1:n.-519+184_-519+193del