Canonical Allele Identifier: CA368983508

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305552T>A (hg19) ; chr7:g.117665498T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665498T>A , CM000669.2:g.117665498T>A	GRCh38
NC_000007.13:g.117305552T>A , CM000669.1:g.117305552T>A	GRCh37
NC_000007.12:g.117092788T>A	NCBI36
NG_016465.4:g.204715T>A , LRG_663:g.204715T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*385T>A	ENSP00000497673.2:n.*385T>A
ENST00000647978.2:c.*3890T>A	ENSP00000497658.1:n.*3890T>A
ENST00000649781.2:c.3993T>A	ENSP00000497203.1:p.Phe1331Leu
ENST00000685018.2:c.*389T>A	ENSP00000510194.2:n.*389T>A
ENST00000687278.2:c.*829T>A	ENSP00000509593.2:n.*829T>A
ENST00000699585.1:c.*385T>A	ENSP00000514456.1:n.*385T>A
ENST00000699598.1:c.4176T>A	ENSP00000514467.1:p.Phe1392Leu
ENST00000699599.1:c.*389T>A	ENSP00000514468.1:n.*389T>A
ENST00000699600.1:c.*837T>A	ENSP00000514469.1:n.*837T>A
ENST00000699601.1:c.*2551T>A	ENSP00000514470.1:n.*2551T>A
ENST00000699602.1:c.4170T>A	ENSP00000514471.1:p.Phe1390Leu
ENST00000699604.1:c.*4000T>A	ENSP00000514472.1:n.*4000T>A
ENST00000699605.1:c.3750T>A	ENSP00000514473.1:p.Phe1250Leu
ENST00000699606.1:n.2344T>A
ENST00000685018.1:c.1040T>A	ENSP00000510194.1:n.1040T>A
ENST00000687278.1:c.1963T>A	ENSP00000509593.1:n.1963T>A
ENST00000689011.1:c.758T>A
ENST00000003084.11:c.4176T>A MANE Select	ENSP00000003084.6:p.Phe1392Leu
ENST00000647720.1:c.1626T>A
ENST00000649781.1:c.3993T>A	ENSP00000497203.1:p.Phe1331Leu
ENST00000003084.10:c.4176T>A	ENSP00000003084.6:p.Phe1392Leu
ENST00000426809.5:c.4086T>A	ENSP00000389119.1:p.Phe1362Leu
ENST00000600166.1:c.302T>A
NM_000492.3:c.4176T>A , LRG_663t1:c.4176T>A	NP_000483.3:p.Phe1392Leu
XM_011515751.1:c.4266T>A	XP_011514053.1:p.Phe1422Leu
XM_011515752.1:c.4266T>A	XP_011514054.1:p.Phe1422Leu
XM_011515753.1:c.3933T>A	XP_011514055.1:p.Phe1311Leu
XM_011515754.1:c.3933T>A	XP_011514056.1:p.Phe1311Leu
NM_000492.4:c.4176T>A MANE Select	NP_000483.3:p.Phe1392Leu