Canonical Allele Identifier: CA2578999812

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480031G>A , CM000669.2:g.117480031G>A	GRCh38
NC_000007.13:g.117120085G>A , CM000669.1:g.117120085G>A	GRCh37
NC_000007.12:g.116907321G>A	NCBI36
NG_016465.4:g.19248G>A , LRG_663:g.19248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.-64G>A	ENSP00000497673.2:n.-64G>A
ENST00000647978.2:c.-64G>A	ENSP00000497658.1:n.-64G>A
ENST00000649781.2:c.-64G>A	ENSP00000497203.1:n.-64G>A
ENST00000649850.2:c.-64G>A	ENSP00000514457.1:n.-64G>A
ENST00000685018.2:c.-64G>A	ENSP00000510194.2:n.-64G>A
ENST00000687278.2:c.-64G>A	ENSP00000509593.2:n.-64G>A
ENST00000692802.2:n.21G>A
ENST00000693465.2:n.22G>A
ENST00000693480.2:n.21G>A
ENST00000699585.1:c.-64G>A	ENSP00000514456.1:n.-64G>A
ENST00000699596.1:c.-64G>A	ENSP00000514465.1:n.-64G>A
ENST00000699597.1:c.-64G>A	ENSP00000514466.1:n.-64G>A
ENST00000699598.1:c.-64G>A	ENSP00000514467.1:n.-64G>A
ENST00000699599.1:c.-64G>A	ENSP00000514468.1:n.-64G>A
ENST00000699600.1:c.-64G>A	ENSP00000514469.1:n.-64G>A
ENST00000699601.1:c.-64G>A	ENSP00000514470.1:n.-64G>A
ENST00000699602.1:c.-64G>A	ENSP00000514471.1:n.-64G>A
ENST00000699603.1:n.21G>A
ENST00000699604.1:c.-64G>A	ENSP00000514472.1:n.-64G>A
ENST00000699605.1:c.-416G>A	ENSP00000514473.1:n.-416G>A
ENST00000446805.2:c.-191+337G>A	ENSP00000417012.1:n.-191+337G>A
ENST00000692802.1:n.7G>A
ENST00000693465.1:n.7G>A
ENST00000693480.1:n.7G>A
ENST00000003084.11:c.-64G>A MANE Select	ENSP00000003084.6:n.-64G>A
ENST00000647639.1:n.21G>A
ENST00000647978.1:c.-64G>A	ENSP00000497658.1:n.-64G>A
ENST00000648260.1:c.-64G>A	ENSP00000497957.1:n.-64G>A
ENST00000649406.1:c.-64G>A	ENSP00000497965.1:n.-64G>A
ENST00000649850.1:n.20G>A
ENST00000673785.1:c.-406+14200G>A	ENSP00000501235.1:n.-406+14200G>A
ENST00000003084.10:c.-64G>A	ENSP00000003084.6:n.-64G>A
ENST00000446805.1:c.-191+337G>A	ENSP00000417012.1:n.-191+337G>A
ENST00000546407.1:n.166+4223G>A
NM_000492.3:c.-64G>A , LRG_663t1:c.-64G>A	NP_000483.3:n.-64G>A
XM_011515751.1:c.143+686G>A	XP_011514053.1:n.143+686G>A
XM_011515752.1:c.143+686G>A	XP_011514054.1:n.143+686G>A
XM_011515753.1:c.-191+337G>A	XP_011514055.1:n.-191+337G>A
XM_011515754.1:c.-518-117G>A	XP_011514056.1:n.-518-117G>A
NM_000492.4:c.-64G>A MANE Select	NP_000483.3:n.-64G>A