Canonical Allele Identifier: CA368983740

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305592G>T (hg19) ; chr7:g.117665538G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665538G>T , CM000669.2:g.117665538G>T	GRCh38
NC_000007.13:g.117305592G>T , CM000669.1:g.117305592G>T	GRCh37
NC_000007.12:g.117092828G>T	NCBI36
NG_016465.4:g.204755G>T , LRG_663:g.204755G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*425G>T	ENSP00000497673.2:n.*425G>T
ENST00000647978.2:c.*3930G>T	ENSP00000497658.1:n.*3930G>T
ENST00000649781.2:c.4033G>T	ENSP00000497203.1:p.Ala1345Ser
ENST00000685018.2:c.*429G>T	ENSP00000510194.2:n.*429G>T
ENST00000687278.2:c.*869G>T	ENSP00000509593.2:n.*869G>T
ENST00000699585.1:c.*425G>T	ENSP00000514456.1:n.*425G>T
ENST00000699598.1:c.4216G>T	ENSP00000514467.1:p.Ala1406Ser
ENST00000699599.1:c.*429G>T	ENSP00000514468.1:n.*429G>T
ENST00000699600.1:c.*877G>T	ENSP00000514469.1:n.*877G>T
ENST00000699601.1:c.*2591G>T	ENSP00000514470.1:n.*2591G>T
ENST00000699602.1:c.4210G>T	ENSP00000514471.1:p.Ala1404Ser
ENST00000699604.1:c.*4040G>T	ENSP00000514472.1:n.*4040G>T
ENST00000699605.1:c.3790G>T	ENSP00000514473.1:p.Ala1264Ser
ENST00000699606.1:n.2384G>T
ENST00000685018.1:c.1080G>T	ENSP00000510194.1:n.1080G>T
ENST00000687278.1:c.2003G>T	ENSP00000509593.1:n.2003G>T
ENST00000689011.1:c.798G>T
ENST00000003084.11:c.4216G>T MANE Select	ENSP00000003084.6:p.Ala1406Ser
ENST00000647720.1:c.1666G>T
ENST00000649781.1:c.4033G>T	ENSP00000497203.1:p.Ala1345Ser
ENST00000003084.10:c.4216G>T	ENSP00000003084.6:p.Ala1406Ser
ENST00000426809.5:c.4126G>T	ENSP00000389119.1:p.Ala1376Ser
ENST00000600166.1:c.342G>T
NM_000492.3:c.4216G>T , LRG_663t1:c.4216G>T	NP_000483.3:p.Ala1406Ser
XM_011515751.1:c.4306G>T	XP_011514053.1:p.Ala1436Ser
XM_011515752.1:c.4306G>T	XP_011514054.1:p.Ala1436Ser
XM_011515753.1:c.3973G>T	XP_011514055.1:p.Ala1325Ser
XM_011515754.1:c.3973G>T	XP_011514056.1:p.Ala1325Ser
NM_000492.4:c.4216G>T MANE Select	NP_000483.3:p.Ala1406Ser