Canonical Allele Identifier: CA368992368

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611722C>G , CM000669.2:g.117611722C>G	GRCh38
NC_000007.13:g.117251776C>G , CM000669.1:g.117251776C>G	GRCh37
NC_000007.12:g.117039012C>G	NCBI36
NG_016465.4:g.150939C>G , LRG_663:g.150939C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3281C>G MANE Select	NP_000483.3:p.Ser1094Ter
ENST00000003084.11:c.3281C>G MANE Select	ENSP00000003084.6:p.Ser1094Ter
NM_000492.3:c.3281C>G , LRG_663t1:c.3281C>G	NP_000483.3:p.Ser1094Ter
ENST00000003084.10:c.3281C>G	ENSP00000003084.6:p.Ser1094Ter
ENST00000426809.5:c.3191C>G	ENSP00000389119.1:p.Ser1064Ter
ENST00000468795.1:c.106C>G
ENST00000647720.1:c.931C>G
ENST00000647720.2:c.3281C>G	ENSP00000497673.2:p.Ser1094Ter
ENST00000647978.2:c.*2995C>G	ENSP00000497658.1:n.*2995C>G
ENST00000648260.1:c.2063C>G	ENSP00000497957.1:p.Ser688Ter
ENST00000649406.1:c.3098C>G	ENSP00000497965.1:p.Ser1033Ter
ENST00000649781.1:c.3098C>G	ENSP00000497203.1:p.Ser1033Ter
ENST00000649781.2:c.3098C>G	ENSP00000497203.1:p.Ser1033Ter
ENST00000685018.1:c.29C>G	ENSP00000510194.1:p.Ser10Ter
ENST00000685018.2:c.3281C>G	ENSP00000510194.2:p.Ser1094Ter
ENST00000687278.1:c.872C>G	ENSP00000509593.1:p.Ser291Ter
ENST00000687278.2:c.3281C>G	ENSP00000509593.2:p.Ser1094Ter
ENST00000699585.1:c.3281C>G	ENSP00000514456.1:p.Ser1094Ter
ENST00000699598.1:c.3281C>G	ENSP00000514467.1:p.Ser1094Ter
ENST00000699599.1:c.3281C>G	ENSP00000514468.1:p.Ser1094Ter
ENST00000699600.1:c.3281C>G	ENSP00000514469.1:p.Ser1094Ter
ENST00000699601.1:c.*1581C>G	ENSP00000514470.1:n.*1581C>G
ENST00000699602.1:c.3281C>G	ENSP00000514471.1:p.Ser1094Ter
ENST00000699604.1:c.*3105C>G	ENSP00000514472.1:n.*3105C>G
ENST00000699605.1:c.2855C>G	ENSP00000514473.1:p.Ser952Ter
XM_011515751.1:c.3371C>G	XP_011514053.1:p.Ser1124Ter
XM_011515752.1:c.3371C>G	XP_011514054.1:p.Ser1124Ter
XM_011515753.1:c.3038C>G	XP_011514055.1:p.Ser1013Ter
XM_011515754.1:c.3038C>G	XP_011514056.1:p.Ser1013Ter