Canonical Allele Identifier: CA2715324195

Gene: CFTR

Linked Data

• dbSNP Id: rs1370845871

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478914T>G , CM000669.2:g.117478914T>G	GRCh38
NC_000007.13:g.117118968T>G , CM000669.1:g.117118968T>G	GRCh37
NC_000007.12:g.116906204T>G	NCBI36
NG_016465.4:g.18131T>G , LRG_663:g.18131T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-525-330T>G	ENSP00000417012.1:n.-525-330T>G
ENST00000673785.1:c.-406+13083T>G	ENSP00000501235.1:n.-406+13083T>G
ENST00000546407.1:n.166+3106T>G
XM_011515751.1:c.42-330T>G	XP_011514053.1:n.42-330T>G
XM_011515752.1:c.42-330T>G	XP_011514054.1:n.42-330T>G
XM_011515754.1:c.-1183T>G	XP_011514056.1:n.-1183T>G