Canonical Allele Identifier: CA326931

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603682A>G , CM000669.2:g.117603682A>G	GRCh38
NC_000007.13:g.117243736A>G , CM000669.1:g.117243736A>G	GRCh37
NC_000007.12:g.117030972A>G	NCBI36
NG_016465.4:g.142899A>G , LRG_663:g.142899A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.2808A>G MANE Select	NP_000483.3:p.Pro936=
ENST00000003084.11:c.2808A>G MANE Select	ENSP00000003084.6:p.Pro936=
NM_000492.3:c.2808A>G , LRG_663t1:c.2808A>G	NP_000483.3:p.Pro936=
ENST00000003084.10:c.2808A>G	ENSP00000003084.6:p.Pro936=
ENST00000426809.5:c.2718A>G	ENSP00000389119.1:p.Pro906=
ENST00000647720.1:c.458A>G
ENST00000647720.2:c.2808A>G	ENSP00000497673.2:p.Pro936=
ENST00000647978.2:c.*2522A>G	ENSP00000497658.1:n.*2522A>G
ENST00000648260.1:c.1590A>G	ENSP00000497957.1:p.Pro530=
ENST00000649406.1:c.2625A>G	ENSP00000497965.1:p.Pro875=
ENST00000649781.1:c.2625A>G	ENSP00000497203.1:p.Pro875=
ENST00000649781.2:c.2625A>G	ENSP00000497203.1:p.Pro875=
ENST00000685018.2:c.2808A>G	ENSP00000510194.2:p.Pro936=
ENST00000687278.1:c.399A>G	ENSP00000509593.1:p.Pro133=
ENST00000687278.2:c.2808A>G	ENSP00000509593.2:p.Pro936=
ENST00000699585.1:c.2808A>G	ENSP00000514456.1:p.Pro936=
ENST00000699598.1:c.2808A>G	ENSP00000514467.1:p.Pro936=
ENST00000699599.1:c.2808A>G	ENSP00000514468.1:p.Pro936=
ENST00000699600.1:c.2808A>G	ENSP00000514469.1:p.Pro936=
ENST00000699601.1:c.*1108A>G	ENSP00000514470.1:n.*1108A>G
ENST00000699602.1:c.2808A>G	ENSP00000514471.1:p.Pro936=
ENST00000699604.1:c.*2632A>G	ENSP00000514472.1:n.*2632A>G
ENST00000699605.1:c.2382A>G	ENSP00000514473.1:p.Pro794=
XM_011515751.1:c.2898A>G	XP_011514053.1:p.Pro966=
XM_011515752.1:c.2898A>G	XP_011514054.1:p.Pro966=
XM_011515753.1:c.2565A>G	XP_011514055.1:p.Pro855=
XM_011515754.1:c.2565A>G	XP_011514056.1:p.Pro855=