Canonical Allele Identifier: CA457230195

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117254737T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614683T>G , CM000669.2:g.117614683T>G	GRCh38
NC_000007.13:g.117254737T>G , CM000669.1:g.117254737T>G	GRCh37
NC_000007.12:g.117041973T>G	NCBI36
NG_016465.4:g.153900T>G , LRG_663:g.153900T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3438T>G	ENSP00000497673.2:p.Ala1146=
ENST00000647978.2:c.*3152T>G	ENSP00000497658.1:n.*3152T>G
ENST00000649781.2:c.3255T>G	ENSP00000497203.1:p.Ala1085=
ENST00000685018.2:c.3438T>G	ENSP00000510194.2:p.Ala1146=
ENST00000687278.2:c.3438T>G	ENSP00000509593.2:p.Ala1146=
ENST00000699585.1:c.3438T>G	ENSP00000514456.1:p.Ala1146=
ENST00000699598.1:c.3438T>G	ENSP00000514467.1:p.Ala1146=
ENST00000699599.1:c.3438T>G	ENSP00000514468.1:p.Ala1146=
ENST00000699600.1:c.3438T>G	ENSP00000514469.1:p.Ala1146=
ENST00000699601.1:c.*1813T>G	ENSP00000514470.1:n.*1813T>G
ENST00000699602.1:c.3432T>G	ENSP00000514471.1:p.Ala1144=
ENST00000699604.1:c.*3262T>G	ENSP00000514472.1:n.*3262T>G
ENST00000699605.1:c.3012T>G	ENSP00000514473.1:p.Ala1004=
ENST00000685018.1:c.186T>G	ENSP00000510194.1:p.Ala62=
ENST00000687278.1:c.1029T>G	ENSP00000509593.1:p.Ala343=
ENST00000689011.1:c.20T>G
ENST00000003084.11:c.3438T>G MANE Select	ENSP00000003084.6:p.Ala1146=
ENST00000647720.1:c.1088T>G
ENST00000648260.1:c.2220T>G	ENSP00000497957.1:p.Ala740=
ENST00000649406.1:c.3255T>G	ENSP00000497965.1:p.Ala1085=
ENST00000649781.1:c.3255T>G	ENSP00000497203.1:p.Ala1085=
ENST00000003084.10:c.3438T>G	ENSP00000003084.6:p.Ala1146=
ENST00000426809.5:c.3348T>G	ENSP00000389119.1:p.Ala1116=
ENST00000468795.1:c.263T>G
NM_000492.3:c.3438T>G , LRG_663t1:c.3438T>G	NP_000483.3:p.Ala1146=
XM_011515751.1:c.3528T>G	XP_011514053.1:p.Ala1176=
XM_011515752.1:c.3528T>G	XP_011514054.1:p.Ala1176=
XM_011515753.1:c.3195T>G	XP_011514055.1:p.Ala1065=
XM_011515754.1:c.3195T>G	XP_011514056.1:p.Ala1065=
NM_000492.4:c.3438T>G MANE Select	NP_000483.3:p.Ala1146=