Canonical Allele Identifier: CA4451508

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627676G>A , CM000669.2:g.117627676G>A	GRCh38
NC_000007.13:g.117267730G>A , CM000669.1:g.117267730G>A	GRCh37
NC_000007.12:g.117054966G>A	NCBI36
NG_016465.4:g.166893G>A , LRG_663:g.166893G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3623G>A MANE Select	NP_000483.3:p.Gly1208Asp
ENST00000003084.11:c.3623G>A MANE Select	ENSP00000003084.6:p.Gly1208Asp
NM_000492.3:c.3623G>A , LRG_663t1:c.3623G>A	NP_000483.3:p.Gly1208Asp
ENST00000003084.10:c.3623G>A	ENSP00000003084.6:p.Gly1208Asp
ENST00000426809.5:c.3533G>A	ENSP00000389119.1:p.Gly1178Asp
ENST00000468795.1:c.448G>A
ENST00000647720.1:c.1167+106G>A
ENST00000647720.2:c.3517+106G>A	ENSP00000497673.2:n.3517+106G>A
ENST00000647978.2:c.*3337G>A	ENSP00000497658.1:n.*3337G>A
ENST00000648260.1:c.2405G>A	ENSP00000497957.1:p.Gly802Asp
ENST00000649406.1:c.3440G>A	ENSP00000497965.1:p.Gly1147Asp
ENST00000649781.1:c.3440G>A	ENSP00000497203.1:p.Gly1147Asp
ENST00000649781.2:c.3440G>A	ENSP00000497203.1:p.Gly1147Asp
ENST00000685018.1:c.371G>A	ENSP00000510194.1:p.Gly124Asp
ENST00000685018.2:c.3623G>A	ENSP00000510194.2:p.Gly1208Asp
ENST00000687278.1:c.1410G>A	ENSP00000509593.1:n.1410G>A
ENST00000687278.2:c.*276G>A	ENSP00000509593.2:n.*276G>A
ENST00000689011.1:c.205G>A
ENST00000699585.1:c.3517+106G>A	ENSP00000514456.1:n.3517+106G>A
ENST00000699598.1:c.3623G>A	ENSP00000514467.1:p.Gly1208Asp
ENST00000699599.1:c.3623G>A	ENSP00000514468.1:p.Gly1208Asp
ENST00000699600.1:c.*284G>A	ENSP00000514469.1:n.*284G>A
ENST00000699601.1:c.*1998G>A	ENSP00000514470.1:n.*1998G>A
ENST00000699602.1:c.3617G>A	ENSP00000514471.1:p.Gly1206Asp
ENST00000699604.1:c.*3447G>A	ENSP00000514472.1:n.*3447G>A
ENST00000699605.1:c.3197G>A	ENSP00000514473.1:p.Gly1066Asp
XM_011515751.1:c.3713G>A	XP_011514053.1:p.Gly1238Asp
XM_011515752.1:c.3713G>A	XP_011514054.1:p.Gly1238Asp
XM_011515753.1:c.3380G>A	XP_011514055.1:p.Gly1127Asp
XM_011515754.1:c.3380G>A	XP_011514056.1:p.Gly1127Asp