Canonical Allele Identifier: CA164948128

Gene: CFTR

Linked Data

• dbSNP Id: rs992246425
• gnomAD v2: 7-117119063-G-T
• gnomAD v3: 7-117479009-G-T
• gnomAD v4: 7-117479009-G-T
• MyVariant Identifiers: chr7:g.117119063G>T (hg19) ; chr7:g.117479009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479009G>T , CM000669.2:g.117479009G>T	GRCh38
NC_000007.13:g.117119063G>T , CM000669.1:g.117119063G>T	GRCh37
NC_000007.12:g.116906299G>T	NCBI36
NG_016465.4:g.18226G>T , LRG_663:g.18226G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-235G>T	ENSP00000417012.1:n.-525-235G>T
ENST00000673785.1:c.-406+13178G>T	ENSP00000501235.1:n.-406+13178G>T
ENST00000546407.1:n.166+3201G>T
XM_011515751.1:c.42-235G>T	XP_011514053.1:n.42-235G>T
XM_011515752.1:c.42-235G>T	XP_011514054.1:n.42-235G>T
XM_011515754.1:c.-1088G>T	XP_011514056.1:n.-1088G>T