Canonical Allele Identifier: CA2777590836

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478683T>C , CM000669.2:g.117478683T>C	GRCh38
NC_000007.13:g.117118737T>C , CM000669.1:g.117118737T>C	GRCh37
NC_000007.12:g.116905973T>C	NCBI36
NG_016465.4:g.17900T>C , LRG_663:g.17900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-526+261T>C	ENSP00000417012.1:n.-526+261T>C
ENST00000673785.1:c.-406+12852T>C	ENSP00000501235.1:n.-406+12852T>C
ENST00000546407.1:n.166+2875T>C
XM_011515751.1:c.41+261T>C	XP_011514053.1:n.41+261T>C
XM_011515752.1:c.41+261T>C	XP_011514054.1:n.41+261T>C