Canonical Allele Identifier: CA1737343738

Gene: CFTR

Linked Data

• dbSNP Id: rs1797943865

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479246C>G , CM000669.2:g.117479246C>G	GRCh38
NC_000007.13:g.117119300C>G , CM000669.1:g.117119300C>G	GRCh37
NC_000007.12:g.116906536C>G	NCBI36
NG_016465.4:g.18463C>G , LRG_663:g.18463C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-523C>G	ENSP00000417012.1:n.-523C>G
ENST00000673785.1:c.-406+13415C>G	ENSP00000501235.1:n.-406+13415C>G
ENST00000546407.1:n.166+3438C>G
XM_011515751.1:c.44C>G	XP_011514053.1:p.Thr15Arg
XM_011515752.1:c.44C>G	XP_011514054.1:p.Thr15Arg
XM_011515754.1:c.-851C>G	XP_011514056.1:n.-851C>G