Canonical Allele Identifier: CA832112793

Gene: CFTR

Linked Data

• dbSNP Id: rs1480858628
• gnomAD v3: 7-117479994-G-A
• gnomAD v4: 7-117479994-G-A
• MyVariant Identifiers: chr7:g.117120048G>A (hg19) ; chr7:g.117479994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479994G>A , CM000669.2:g.117479994G>A	GRCh38
NC_000007.13:g.117120048G>A , CM000669.1:g.117120048G>A	GRCh37
NC_000007.12:g.116907284G>A	NCBI36
NG_016465.4:g.19211G>A , LRG_663:g.19211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.-101G>A	ENSP00000497673.2:n.-101G>A
ENST00000685018.2:c.-101G>A	ENSP00000510194.2:n.-101G>A
ENST00000687278.2:c.-101G>A	ENSP00000509593.2:n.-101G>A
ENST00000699585.1:c.-101G>A	ENSP00000514456.1:n.-101G>A
ENST00000699596.1:c.-101G>A	ENSP00000514465.1:n.-101G>A
ENST00000699597.1:c.-101G>A	ENSP00000514466.1:n.-101G>A
ENST00000699598.1:c.-101G>A	ENSP00000514467.1:n.-101G>A
ENST00000699599.1:c.-101G>A	ENSP00000514468.1:n.-101G>A
ENST00000699600.1:c.-101G>A	ENSP00000514469.1:n.-101G>A
ENST00000699601.1:c.-101G>A	ENSP00000514470.1:n.-101G>A
ENST00000699602.1:c.-101G>A	ENSP00000514471.1:n.-101G>A
ENST00000446805.2:c.-191+300G>A	ENSP00000417012.1:n.-191+300G>A
ENST00000673785.1:c.-406+14163G>A	ENSP00000501235.1:n.-406+14163G>A
ENST00000003084.10:c.-101G>A	ENSP00000003084.6:n.-101G>A
ENST00000446805.1:c.-191+300G>A	ENSP00000417012.1:n.-191+300G>A
ENST00000546407.1:n.166+4186G>A
NM_000492.3:c.-101G>A , LRG_663t1:c.-101G>A	NP_000483.3:n.-101G>A
XM_011515751.1:c.143+649G>A	XP_011514053.1:n.143+649G>A
XM_011515752.1:c.143+649G>A	XP_011514054.1:n.143+649G>A
XM_011515753.1:c.-191+300G>A	XP_011514055.1:n.-191+300G>A
XM_011515754.1:c.-518-154G>A	XP_011514056.1:n.-518-154G>A