Canonical Allele Identifier: CA832112530

Gene: CFTR

Linked Data

• dbSNP Id: rs1351974095
• MyVariant Identifiers: chr7:g.117119597C>T (hg19) ; chr7:g.117479543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479543C>T , CM000669.2:g.117479543C>T	GRCh38
NC_000007.13:g.117119597C>T , CM000669.1:g.117119597C>T	GRCh37
NC_000007.12:g.116906833C>T	NCBI36
NG_016465.4:g.18760C>T , LRG_663:g.18760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-342C>T	ENSP00000417012.1:n.-342C>T
ENST00000673785.1:c.-406+13712C>T	ENSP00000501235.1:n.-406+13712C>T
ENST00000446805.1:c.-342C>T	ENSP00000417012.1:n.-342C>T
ENST00000546407.1:n.166+3735C>T
XM_011515751.1:c.143+198C>T	XP_011514053.1:n.143+198C>T
XM_011515752.1:c.143+198C>T	XP_011514054.1:n.143+198C>T
XM_011515753.1:c.-342C>T	XP_011514055.1:n.-342C>T
XM_011515754.1:c.-670C>T	XP_011514056.1:n.-670C>T