Canonical Allele Identifier: CA2684616547

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479621-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479623del , CM000669.2:g.117479623del	GRCh38
NC_000007.13:g.117119677del , CM000669.1:g.117119677del	GRCh37
NC_000007.12:g.116906913del	NCBI36
NG_016465.4:g.18840del , LRG_663:g.18840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-262del	ENSP00000417012.1:n.-262del
ENST00000673785.1:c.-406+13792del	ENSP00000501235.1:n.-406+13792del
ENST00000446805.1:c.-262del	ENSP00000417012.1:n.-262del
ENST00000546407.1:n.166+3815del
XM_011515751.1:c.143+278del	XP_011514053.1:n.143+278del
XM_011515752.1:c.143+278del	XP_011514054.1:n.143+278del
XM_011515753.1:c.-262del	XP_011514055.1:n.-262del
XM_011515754.1:c.-590del	XP_011514056.1:n.-590del