Canonical Allele Identifier: CA2684616305

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479308-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479308C>A , CM000669.2:g.117479308C>A	GRCh38
NC_000007.13:g.117119362C>A , CM000669.1:g.117119362C>A	GRCh37
NC_000007.12:g.116906598C>A	NCBI36
NG_016465.4:g.18525C>A , LRG_663:g.18525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-461C>A	ENSP00000417012.1:n.-461C>A
ENST00000673785.1:c.-406+13477C>A	ENSP00000501235.1:n.-406+13477C>A
ENST00000446805.1:c.-461C>A	ENSP00000417012.1:n.-461C>A
ENST00000546407.1:n.166+3500C>A
XM_011515751.1:c.106C>A	XP_011514053.1:p.Leu36Ile
XM_011515752.1:c.106C>A	XP_011514054.1:p.Leu36Ile
XM_011515753.1:c.-461C>A	XP_011514055.1:n.-461C>A
XM_011515754.1:c.-789C>A	XP_011514056.1:n.-789C>A