Canonical Allele Identifier: CA2715498660

Gene: CFTR

Linked Data

• dbSNP Id: rs2116603109

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479574G>C , CM000669.2:g.117479574G>C	GRCh38
NC_000007.13:g.117119628G>C , CM000669.1:g.117119628G>C	GRCh37
NC_000007.12:g.116906864G>C	NCBI36
NG_016465.4:g.18791G>C , LRG_663:g.18791G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-311G>C	ENSP00000417012.1:n.-311G>C
ENST00000673785.1:c.-406+13743G>C	ENSP00000501235.1:n.-406+13743G>C
ENST00000446805.1:c.-311G>C	ENSP00000417012.1:n.-311G>C
ENST00000546407.1:n.166+3766G>C
XM_011515751.1:c.143+229G>C	XP_011514053.1:n.143+229G>C
XM_011515752.1:c.143+229G>C	XP_011514054.1:n.143+229G>C
XM_011515753.1:c.-311G>C	XP_011514055.1:n.-311G>C
XM_011515754.1:c.-639G>C	XP_011514056.1:n.-639G>C