Canonical Allele Identifier: CA325529

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603612A>G , CM000669.2:g.117603612A>G	GRCh38
NC_000007.13:g.117243666A>G , CM000669.1:g.117243666A>G	GRCh37
NC_000007.12:g.117030902A>G	NCBI36
NG_016465.4:g.142829A>G , LRG_663:g.142829A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.2738A>G MANE Select	NP_000483.3:p.Tyr913Cys
ENST00000003084.11:c.2738A>G MANE Select	ENSP00000003084.6:p.Tyr913Cys
NM_000492.3:c.2738A>G , LRG_663t1:c.2738A>G	NP_000483.3:p.Tyr913Cys
ENST00000003084.10:c.2738A>G	ENSP00000003084.6:p.Tyr913Cys
ENST00000426809.5:c.2648A>G	ENSP00000389119.1:p.Tyr883Cys
ENST00000647720.1:c.388A>G
ENST00000647720.2:c.2738A>G	ENSP00000497673.2:p.Tyr913Cys
ENST00000647978.2:c.*2452A>G	ENSP00000497658.1:n.*2452A>G
ENST00000648260.1:c.1520A>G	ENSP00000497957.1:p.Tyr507Cys
ENST00000649406.1:c.2555A>G	ENSP00000497965.1:p.Tyr852Cys
ENST00000649781.1:c.2555A>G	ENSP00000497203.1:p.Tyr852Cys
ENST00000649781.2:c.2555A>G	ENSP00000497203.1:p.Tyr852Cys
ENST00000685018.2:c.2738A>G	ENSP00000510194.2:p.Tyr913Cys
ENST00000687278.1:c.329A>G	ENSP00000509593.1:p.Tyr110Cys
ENST00000687278.2:c.2738A>G	ENSP00000509593.2:p.Tyr913Cys
ENST00000699585.1:c.2738A>G	ENSP00000514456.1:p.Tyr913Cys
ENST00000699598.1:c.2738A>G	ENSP00000514467.1:p.Tyr913Cys
ENST00000699599.1:c.2738A>G	ENSP00000514468.1:p.Tyr913Cys
ENST00000699600.1:c.2738A>G	ENSP00000514469.1:p.Tyr913Cys
ENST00000699601.1:c.*1038A>G	ENSP00000514470.1:n.*1038A>G
ENST00000699602.1:c.2738A>G	ENSP00000514471.1:p.Tyr913Cys
ENST00000699604.1:c.*2562A>G	ENSP00000514472.1:n.*2562A>G
ENST00000699605.1:c.2312A>G	ENSP00000514473.1:p.Tyr771Cys
XM_011515751.1:c.2828A>G	XP_011514053.1:p.Tyr943Cys
XM_011515752.1:c.2828A>G	XP_011514054.1:p.Tyr943Cys
XM_011515753.1:c.2495A>G	XP_011514055.1:p.Tyr832Cys
XM_011515754.1:c.2495A>G	XP_011514056.1:p.Tyr832Cys