Canonical Allele Identifier: CA2684616458

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479513-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479513C>T , CM000669.2:g.117479513C>T	GRCh38
NC_000007.13:g.117119567C>T , CM000669.1:g.117119567C>T	GRCh37
NC_000007.12:g.116906803C>T	NCBI36
NG_016465.4:g.18730C>T , LRG_663:g.18730C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-372C>T	ENSP00000417012.1:n.-372C>T
ENST00000673785.1:c.-406+13682C>T	ENSP00000501235.1:n.-406+13682C>T
ENST00000446805.1:c.-372C>T	ENSP00000417012.1:n.-372C>T
ENST00000546407.1:n.166+3705C>T
XM_011515751.1:c.143+168C>T	XP_011514053.1:n.143+168C>T
XM_011515752.1:c.143+168C>T	XP_011514054.1:n.143+168C>T
XM_011515753.1:c.-372C>T	XP_011514055.1:n.-372C>T
XM_011515754.1:c.-700C>T	XP_011514056.1:n.-700C>T