Canonical Allele Identifier: CA368977894

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292902T>G (hg19) ; chr7:g.117652848T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652848T>G , CM000669.2:g.117652848T>G	GRCh38
NC_000007.13:g.117292902T>G , CM000669.1:g.117292902T>G	GRCh37
NC_000007.12:g.117080138T>G	NCBI36
NG_016465.4:g.192065T>G , LRG_663:g.192065T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*89T>G	ENSP00000497673.2:n.*89T>G
ENST00000647978.2:c.*3594T>G	ENSP00000497658.1:n.*3594T>G
ENST00000649781.2:c.3697T>G	ENSP00000497203.1:p.Phe1233Val
ENST00000685018.2:c.*93T>G	ENSP00000510194.2:n.*93T>G
ENST00000687278.2:c.*533T>G	ENSP00000509593.2:n.*533T>G
ENST00000699585.1:c.*89T>G	ENSP00000514456.1:n.*89T>G
ENST00000699598.1:c.3880T>G	ENSP00000514467.1:p.Phe1294Val
ENST00000699599.1:c.*93T>G	ENSP00000514468.1:n.*93T>G
ENST00000699600.1:c.*541T>G	ENSP00000514469.1:n.*541T>G
ENST00000699601.1:c.*2255T>G	ENSP00000514470.1:n.*2255T>G
ENST00000699602.1:c.3874T>G	ENSP00000514471.1:p.Phe1292Val
ENST00000699604.1:c.*3704T>G	ENSP00000514472.1:n.*3704T>G
ENST00000699605.1:c.3454T>G	ENSP00000514473.1:p.Phe1152Val
ENST00000699606.1:n.2048T>G
ENST00000685018.1:c.744T>G	ENSP00000510194.1:n.744T>G
ENST00000687278.1:c.1667T>G	ENSP00000509593.1:n.1667T>G
ENST00000689011.1:c.462T>G
ENST00000003084.11:c.3880T>G MANE Select	ENSP00000003084.6:p.Phe1294Val
ENST00000647720.1:c.1330T>G
ENST00000649781.1:c.3697T>G	ENSP00000497203.1:p.Phe1233Val
ENST00000003084.10:c.3880T>G	ENSP00000003084.6:p.Phe1294Val
ENST00000426809.5:c.3790T>G	ENSP00000389119.1:p.Phe1264Val
ENST00000600166.1:c.6T>G
NM_000492.3:c.3880T>G , LRG_663t1:c.3880T>G	NP_000483.3:p.Phe1294Val
XM_011515751.1:c.3970T>G	XP_011514053.1:p.Phe1324Val
XM_011515752.1:c.3970T>G	XP_011514054.1:p.Phe1324Val
XM_011515753.1:c.3637T>G	XP_011514055.1:p.Phe1213Val
XM_011515754.1:c.3637T>G	XP_011514056.1:p.Phe1213Val
NM_000492.4:c.3880T>G MANE Select	NP_000483.3:p.Phe1294Val