Canonical Allele Identifier: CA2715498288

Gene: CFTR

Linked Data

• dbSNP Id: rs2116601272

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478831G>C , CM000669.2:g.117478831G>C	GRCh38
NC_000007.13:g.117118885G>C , CM000669.1:g.117118885G>C	GRCh37
NC_000007.12:g.116906121G>C	NCBI36
NG_016465.4:g.18048G>C , LRG_663:g.18048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-526+409G>C	ENSP00000417012.1:n.-526+409G>C
ENST00000673785.1:c.-406+13000G>C	ENSP00000501235.1:n.-406+13000G>C
ENST00000546407.1:n.166+3023G>C
XM_011515751.1:c.41+409G>C	XP_011514053.1:n.41+409G>C
XM_011515752.1:c.41+409G>C	XP_011514054.1:n.41+409G>C
XM_011515754.1:c.-1266G>C	XP_011514056.1:n.-1266G>C