Canonical Allele Identifier: CA832112569

Gene: CFTR

Linked Data

• dbSNP Id: rs1193800573
• gnomAD v3: 7-117479604-G-A
• gnomAD v4: 7-117479604-G-A
• MyVariant Identifiers: chr7:g.117119658G>A (hg19) ; chr7:g.117479604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479604G>A , CM000669.2:g.117479604G>A	GRCh38
NC_000007.13:g.117119658G>A , CM000669.1:g.117119658G>A	GRCh37
NC_000007.12:g.116906894G>A	NCBI36
NG_016465.4:g.18821G>A , LRG_663:g.18821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-281G>A	ENSP00000417012.1:n.-281G>A
ENST00000673785.1:c.-406+13773G>A	ENSP00000501235.1:n.-406+13773G>A
ENST00000446805.1:c.-281G>A	ENSP00000417012.1:n.-281G>A
ENST00000546407.1:n.166+3796G>A
XM_011515751.1:c.143+259G>A	XP_011514053.1:n.143+259G>A
XM_011515752.1:c.143+259G>A	XP_011514054.1:n.143+259G>A
XM_011515753.1:c.-281G>A	XP_011514055.1:n.-281G>A
XM_011515754.1:c.-609G>A	XP_011514056.1:n.-609G>A