Canonical Allele Identifier: CA832112672

Gene: CFTR

Linked Data

• dbSNP Id: rs1178563051
• gnomAD v3: 7-117479823-GGGGTGCGTAGT-G
• gnomAD v4: 7-117479823-GGGGTGCGTAGT-G
• MyVariant Identifiers: chr7:g.117119878_117119888del (hg19) ; chr7:g.117479824_117479834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479829_117479839del , CM000669.2:g.117479829_117479839del	GRCh38
NC_000007.13:g.117119883_117119893del , CM000669.1:g.117119883_117119893del	GRCh37
NC_000007.12:g.116907119_116907129del	NCBI36
NG_016465.4:g.19046_19056del , LRG_663:g.19046_19056del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+135_-191+145del	ENSP00000417012.1:n.-191+135_-191+145del
ENST00000673785.1:c.-406+13998_-406+14008del	ENSP00000501235.1:n.-406+13998_-406+14008...
ENST00000446805.1:c.-191+135_-191+145del	ENSP00000417012.1:n.-191+135_-191+145del
ENST00000546407.1:n.166+4021_166+4031del
XM_011515751.1:c.143+484_143+494del	XP_011514053.1:n.143+484_143+494del
XM_011515752.1:c.143+484_143+494del	XP_011514054.1:n.143+484_143+494del
XM_011515753.1:c.-191+135_-191+145del	XP_011514055.1:n.-191+135_-191+145del
XM_011515754.1:c.-519+135_-519+145del	XP_011514056.1:n.-519+135_-519+145del