Canonical Allele Identifier: CA368982648

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304844T>G (hg19) ; chr7:g.117664790T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664790T>G , CM000669.2:g.117664790T>G	GRCh38
NC_000007.13:g.117304844T>G , CM000669.1:g.117304844T>G	GRCh37
NC_000007.12:g.117092080T>G	NCBI36
NG_016465.4:g.204007T>G , LRG_663:g.204007T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*275T>G	ENSP00000497673.2:n.*275T>G
ENST00000647978.2:c.*3780T>G	ENSP00000497658.1:n.*3780T>G
ENST00000649781.2:c.3883T>G	ENSP00000497203.1:p.Leu1295Val
ENST00000685018.2:c.*279T>G	ENSP00000510194.2:n.*279T>G
ENST00000687278.2:c.*719T>G	ENSP00000509593.2:n.*719T>G
ENST00000699585.1:c.*275T>G	ENSP00000514456.1:n.*275T>G
ENST00000699598.1:c.4066T>G	ENSP00000514467.1:p.Leu1356Val
ENST00000699599.1:c.*279T>G	ENSP00000514468.1:n.*279T>G
ENST00000699600.1:c.*727T>G	ENSP00000514469.1:n.*727T>G
ENST00000699601.1:c.*2441T>G	ENSP00000514470.1:n.*2441T>G
ENST00000699602.1:c.4060T>G	ENSP00000514471.1:p.Leu1354Val
ENST00000699604.1:c.*3890T>G	ENSP00000514472.1:n.*3890T>G
ENST00000699605.1:c.3640T>G	ENSP00000514473.1:p.Leu1214Val
ENST00000699606.1:n.2234T>G
ENST00000685018.1:c.930T>G	ENSP00000510194.1:n.930T>G
ENST00000687278.1:c.1853T>G	ENSP00000509593.1:n.1853T>G
ENST00000689011.1:c.648T>G
ENST00000003084.11:c.4066T>G MANE Select	ENSP00000003084.6:p.Leu1356Val
ENST00000647720.1:c.1516T>G
ENST00000649781.1:c.3883T>G	ENSP00000497203.1:p.Leu1295Val
ENST00000003084.10:c.4066T>G	ENSP00000003084.6:p.Leu1356Val
ENST00000426809.5:c.3976T>G	ENSP00000389119.1:p.Leu1326Val
ENST00000600166.1:c.192T>G
NM_000492.3:c.4066T>G , LRG_663t1:c.4066T>G	NP_000483.3:p.Leu1356Val
XM_011515751.1:c.4156T>G	XP_011514053.1:p.Leu1386Val
XM_011515752.1:c.4156T>G	XP_011514054.1:p.Leu1386Val
XM_011515753.1:c.3823T>G	XP_011514055.1:p.Leu1275Val
XM_011515754.1:c.3823T>G	XP_011514056.1:p.Leu1275Val
NM_000492.4:c.4066T>G MANE Select	NP_000483.3:p.Leu1356Val