Canonical Allele Identifier: CA1737344033

Gene: CFTR

Linked Data

• dbSNP Id: rs1797959934
• gnomAD v3: 7-117479588-A-T
• gnomAD v4: 7-117479588-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479588A>T , CM000669.2:g.117479588A>T	GRCh38
NC_000007.13:g.117119642A>T , CM000669.1:g.117119642A>T	GRCh37
NC_000007.12:g.116906878A>T	NCBI36
NG_016465.4:g.18805A>T , LRG_663:g.18805A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-297A>T	ENSP00000417012.1:n.-297A>T
ENST00000673785.1:c.-406+13757A>T	ENSP00000501235.1:n.-406+13757A>T
ENST00000446805.1:c.-297A>T	ENSP00000417012.1:n.-297A>T
ENST00000546407.1:n.166+3780A>T
XM_011515751.1:c.143+243A>T	XP_011514053.1:n.143+243A>T
XM_011515752.1:c.143+243A>T	XP_011514054.1:n.143+243A>T
XM_011515753.1:c.-297A>T	XP_011514055.1:n.-297A>T
XM_011515754.1:c.-625A>T	XP_011514056.1:n.-625A>T