Canonical Allele Identifier: CA2684616452

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479509-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479509G>T , CM000669.2:g.117479509G>T	GRCh38
NC_000007.13:g.117119563G>T , CM000669.1:g.117119563G>T	GRCh37
NC_000007.12:g.116906799G>T	NCBI36
NG_016465.4:g.18726G>T , LRG_663:g.18726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-376G>T	ENSP00000417012.1:n.-376G>T
ENST00000673785.1:c.-406+13678G>T	ENSP00000501235.1:n.-406+13678G>T
ENST00000446805.1:c.-376G>T	ENSP00000417012.1:n.-376G>T
ENST00000546407.1:n.166+3701G>T
XM_011515751.1:c.143+164G>T	XP_011514053.1:n.143+164G>T
XM_011515752.1:c.143+164G>T	XP_011514054.1:n.143+164G>T
XM_011515753.1:c.-376G>T	XP_011514055.1:n.-376G>T
XM_011515754.1:c.-704G>T	XP_011514056.1:n.-704G>T