Canonical Allele Identifier: CA1737343887

Gene: CFTR

Linked Data

• dbSNP Id: rs1265630286

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479408T>G , CM000669.2:g.117479408T>G	GRCh38
NC_000007.13:g.117119462T>G , CM000669.1:g.117119462T>G	GRCh37
NC_000007.12:g.116906698T>G	NCBI36
NG_016465.4:g.18625T>G , LRG_663:g.18625T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-423-54T>G	ENSP00000417012.1:n.-423-54T>G
ENST00000673785.1:c.-406+13577T>G	ENSP00000501235.1:n.-406+13577T>G
ENST00000446805.1:c.-423-54T>G	ENSP00000417012.1:n.-423-54T>G
ENST00000546407.1:n.166+3600T>G
XM_011515751.1:c.143+63T>G	XP_011514053.1:n.143+63T>G
XM_011515752.1:c.143+63T>G	XP_011514054.1:n.143+63T>G
XM_011515753.1:c.-423-54T>G	XP_011514055.1:n.-423-54T>G
XM_011515754.1:c.-751-54T>G	XP_011514056.1:n.-751-54T>G