Canonical Allele Identifier: CA1737343834

Gene: CFTR

Linked Data

• dbSNP Id: rs1797946870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479351T>C , CM000669.2:g.117479351T>C	GRCh38
NC_000007.13:g.117119405T>C , CM000669.1:g.117119405T>C	GRCh37
NC_000007.12:g.116906641T>C	NCBI36
NG_016465.4:g.18568T>C , LRG_663:g.18568T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-424+6T>C	ENSP00000417012.1:n.-424+6T>C
ENST00000673785.1:c.-406+13520T>C	ENSP00000501235.1:n.-406+13520T>C
ENST00000446805.1:c.-424+6T>C	ENSP00000417012.1:n.-424+6T>C
ENST00000546407.1:n.166+3543T>C
XM_011515751.1:c.143+6T>C	XP_011514053.1:n.143+6T>C
XM_011515752.1:c.143+6T>C	XP_011514054.1:n.143+6T>C
XM_011515753.1:c.-424+6T>C	XP_011514055.1:n.-424+6T>C
XM_011515754.1:c.-752+6T>C	XP_011514056.1:n.-752+6T>C