Canonical Allele Identifier: CA2777590978

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479510C>T , CM000669.2:g.117479510C>T	GRCh38
NC_000007.13:g.117119564C>T , CM000669.1:g.117119564C>T	GRCh37
NC_000007.12:g.116906800C>T	NCBI36
NG_016465.4:g.18727C>T , LRG_663:g.18727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-375C>T	ENSP00000417012.1:n.-375C>T
ENST00000673785.1:c.-406+13679C>T	ENSP00000501235.1:n.-406+13679C>T
ENST00000446805.1:c.-375C>T	ENSP00000417012.1:n.-375C>T
ENST00000546407.1:n.166+3702C>T
XM_011515751.1:c.143+165C>T	XP_011514053.1:n.143+165C>T
XM_011515752.1:c.143+165C>T	XP_011514054.1:n.143+165C>T
XM_011515753.1:c.-375C>T	XP_011514055.1:n.-375C>T
XM_011515754.1:c.-703C>T	XP_011514056.1:n.-703C>T