Canonical Allele Identifier: CA2573102334

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[117480098C>T;117480101A>T] , CM000669.2:g.[117480098C>T;117480101A>T]	GRCh38
NC_000007.13:g.[117120152C>T;117120155A>T] , CM000669.1:g.[117120152C>T;117120155A>T]	GRCh37
NC_000007.12:g.[116907388C>T;116907391A>T]	NCBI36
NG_016465.4:g.[19315C>T;19318A>T] , LRG_663:g.[19315C>T;19318A>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.[4C>T;7A>T]	ENSP00000497673.2:p.Gln2Ter
ENST00000647978.2:c.[4C>T;7A>T]	ENSP00000497658.1:p.Gln2Ter
ENST00000649781.2:c.[4C>T;7A>T]	ENSP00000497203.1:p.Gln2Ter
ENST00000649850.2:c.[4C>T;7A>T]	ENSP00000514457.1:p.Gln2Ter
ENST00000685018.2:c.[4C>T;7A>T]	ENSP00000510194.2:p.Gln2Ter
ENST00000687278.2:c.[4C>T;7A>T]	ENSP00000509593.2:p.Gln2Ter
ENST00000692802.2:n.[88C>T;91A>T]
ENST00000693465.2:n.[89C>T;92A>T]
ENST00000693480.2:n.[88C>T;91A>T]
ENST00000699585.1:c.[4C>T;7A>T]	ENSP00000514456.1:p.Gln2Ter
ENST00000699596.1:c.[4C>T;7A>T]	ENSP00000514465.1:p.Gln2Ter
ENST00000699597.1:c.[4C>T;7A>T]	ENSP00000514466.1:p.Gln2Ter
ENST00000699598.1:c.[4C>T;7A>T]	ENSP00000514467.1:p.Gln2Ter
ENST00000699599.1:c.[4C>T;7A>T]	ENSP00000514468.1:p.Gln2Ter
ENST00000699600.1:c.[4C>T;7A>T]	ENSP00000514469.1:p.Gln2Ter
ENST00000699601.1:c.[4C>T;7A>T]	ENSP00000514470.1:p.Gln2Ter
ENST00000699602.1:c.[4C>T;7A>T]	ENSP00000514471.1:p.Gln2Ter
ENST00000699603.1:n.[88C>T;91A>T]
ENST00000699604.1:c.[4C>T;7A>T]	ENSP00000514472.1:p.Gln2Ter
ENST00000699605.1:c.[-349C>T;-346A>T]	ENSP00000514473.1:n.[-349C>T;-346A>T]
ENST00000446805.2:c.[-191+404C>T;-191+407A>T]	ENSP00000417012.1:n.[-191+404C>T;-191+407A>T]
ENST00000692802.1:n.[74C>T;77A>T]
ENST00000693465.1:n.[74C>T;77A>T]
ENST00000693480.1:n.[74C>T;77A>T]
ENST00000003084.11:c.[4C>T;7A>T] MANE Select	ENSP00000003084.6:p.Gln2Ter
ENST00000647639.1:n.[88C>T;91A>T]
ENST00000647978.1:c.[4C>T;7A>T]	ENSP00000497658.1:p.Gln2Ter
ENST00000648260.1:c.[4C>T;7A>T]	ENSP00000497957.1:p.Gln2Ter
ENST00000649406.1:c.[4C>T;7A>T]	ENSP00000497965.1:p.Gln2Ter
ENST00000649781.1:c.[4C>T;7A>T]	ENSP00000497203.1:p.Gln2Ter
ENST00000649850.1:n.[87C>T;90A>T]
ENST00000673785.1:c.[-406+14267C>T;-406+14270A>T]	ENSP00000501235.1:n.[-406+14267C>T;-406+14270A>T]
ENST00000003084.10:c.[4C>T;7A>T]	ENSP00000003084.6:p.Gln2Ter
ENST00000426809.5:c.[4C>T;7A>T]	ENSP00000389119.1:p.Gln2Ter
ENST00000446805.1:c.[-191+404C>T;-191+407A>T]	ENSP00000417012.1:n.[-191+404C>T;-191+407A>T]
ENST00000546407.1:n.[166+4290C>T;166+4293A>T]
NM_000492.3:c.[4C>T;7A>T] , LRG_663t1:c.[4C>T;7A>T]	NP_000483.3:p.Gln2Ter
XM_011515751.1:c.[143+753C>T;143+756A>T]	XP_011514053.1:n.[143+753C>T;143+756A>T]
XM_011515752.1:c.[143+753C>T;143+756A>T]	XP_011514054.1:n.[143+753C>T;143+756A>T]
XM_011515753.1:c.[-191+404C>T;-191+407A>T]	XP_011514055.1:n.[-191+404C>T;-191+407A>T]
XM_011515754.1:c.[-518-50C>T;-518-47A>T]	XP_011514056.1:n.[-518-50C>T;-518-47A>T]
NM_000492.4:c.[4C>T;7A>T] MANE Select	NP_000483.3:p.Gln2Ter