Canonical Allele Identifier: CA327242

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627670C>G , CM000669.2:g.117627670C>G	GRCh38
NC_000007.13:g.117267724C>G , CM000669.1:g.117267724C>G	GRCh37
NC_000007.12:g.117054960C>G	NCBI36
NG_016465.4:g.166887C>G , LRG_663:g.166887C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3617C>G MANE Select	NP_000483.3:p.Ser1206Ter
ENST00000003084.11:c.3617C>G MANE Select	ENSP00000003084.6:p.Ser1206Ter
NM_000492.3:c.3617C>G , LRG_663t1:c.3617C>G	NP_000483.3:p.Ser1206Ter
ENST00000003084.10:c.3617C>G	ENSP00000003084.6:p.Ser1206Ter
ENST00000426809.5:c.3527C>G	ENSP00000389119.1:p.Ser1176Ter
ENST00000468795.1:c.442C>G
ENST00000647720.1:c.1167+100C>G
ENST00000647720.2:c.3517+100C>G	ENSP00000497673.2:n.3517+100C>G
ENST00000647978.2:c.*3331C>G	ENSP00000497658.1:n.*3331C>G
ENST00000648260.1:c.2399C>G	ENSP00000497957.1:p.Ser800Ter
ENST00000649406.1:c.3434C>G	ENSP00000497965.1:p.Ser1145Ter
ENST00000649781.1:c.3434C>G	ENSP00000497203.1:p.Ser1145Ter
ENST00000649781.2:c.3434C>G	ENSP00000497203.1:p.Ser1145Ter
ENST00000685018.1:c.365C>G	ENSP00000510194.1:p.Ser122Ter
ENST00000685018.2:c.3617C>G	ENSP00000510194.2:p.Ser1206Ter
ENST00000687278.1:c.1404C>G	ENSP00000509593.1:n.1404C>G
ENST00000687278.2:c.*270C>G	ENSP00000509593.2:n.*270C>G
ENST00000689011.1:c.199C>G
ENST00000699585.1:c.3517+100C>G	ENSP00000514456.1:n.3517+100C>G
ENST00000699598.1:c.3617C>G	ENSP00000514467.1:p.Ser1206Ter
ENST00000699599.1:c.3617C>G	ENSP00000514468.1:p.Ser1206Ter
ENST00000699600.1:c.*278C>G	ENSP00000514469.1:n.*278C>G
ENST00000699601.1:c.*1992C>G	ENSP00000514470.1:n.*1992C>G
ENST00000699602.1:c.3611C>G	ENSP00000514471.1:p.Ser1204Ter
ENST00000699604.1:c.*3441C>G	ENSP00000514472.1:n.*3441C>G
ENST00000699605.1:c.3191C>G	ENSP00000514473.1:p.Ser1064Ter
XM_011515751.1:c.3707C>G	XP_011514053.1:p.Ser1236Ter
XM_011515752.1:c.3707C>G	XP_011514054.1:p.Ser1236Ter
XM_011515753.1:c.3374C>G	XP_011514055.1:p.Ser1125Ter
XM_011515754.1:c.3374C>G	XP_011514056.1:p.Ser1125Ter