Canonical Allele Identifier: CA2684616984

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479981-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479981T>C , CM000669.2:g.117479981T>C	GRCh38
NC_000007.13:g.117120035T>C , CM000669.1:g.117120035T>C	GRCh37
NC_000007.12:g.116907271T>C	NCBI36
NG_016465.4:g.19198T>C , LRG_663:g.19198T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+287T>C	ENSP00000417012.1:n.-191+287T>C
ENST00000673785.1:c.-406+14150T>C	ENSP00000501235.1:n.-406+14150T>C
ENST00000003084.10:c.-114T>C	ENSP00000003084.6:n.-114T>C
ENST00000446805.1:c.-191+287T>C	ENSP00000417012.1:n.-191+287T>C
ENST00000546407.1:n.166+4173T>C
NM_000492.3:c.-114T>C , LRG_663t1:c.-114T>C	NP_000483.3:n.-114T>C
XM_011515751.1:c.143+636T>C	XP_011514053.1:n.143+636T>C
XM_011515752.1:c.143+636T>C	XP_011514054.1:n.143+636T>C
XM_011515753.1:c.-191+287T>C	XP_011514055.1:n.-191+287T>C
XM_011515754.1:c.-518-167T>C	XP_011514056.1:n.-518-167T>C