Canonical Allele Identifier: CA368985165

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307091T>A (hg19) ; chr7:g.117667037T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667037T>A , CM000669.2:g.117667037T>A	GRCh38
NC_000007.13:g.117307091T>A , CM000669.1:g.117307091T>A	GRCh37
NC_000007.12:g.117094327T>A	NCBI36
NG_016465.4:g.206254T>A , LRG_663:g.206254T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*581T>A	ENSP00000497673.2:n.*581T>A
ENST00000647978.2:c.*4086T>A	ENSP00000497658.1:n.*4086T>A
ENST00000649781.2:c.4189T>A	ENSP00000497203.1:p.Cys1397Ser
ENST00000685018.2:c.*585T>A	ENSP00000510194.2:n.*585T>A
ENST00000687278.2:c.*896-565T>A	ENSP00000509593.2:n.*896-565T>A
ENST00000699585.1:c.*841T>A	ENSP00000514456.1:n.*841T>A
ENST00000699598.1:c.*78T>A	ENSP00000514467.1:n.*78T>A
ENST00000699599.1:c.*585T>A	ENSP00000514468.1:n.*585T>A
ENST00000699600.1:c.*904-565T>A	ENSP00000514469.1:n.*904-565T>A
ENST00000699601.1:c.*2747T>A	ENSP00000514470.1:n.*2747T>A
ENST00000699602.1:c.4366T>A	ENSP00000514471.1:p.Cys1456Ser
ENST00000699604.1:c.*4196T>A	ENSP00000514472.1:n.*4196T>A
ENST00000699605.1:c.3946T>A	ENSP00000514473.1:p.Cys1316Ser
ENST00000699606.1:n.3883T>A
ENST00000685018.1:c.1236T>A	ENSP00000510194.1:n.1236T>A
ENST00000687278.1:c.2030-565T>A	ENSP00000509593.1:n.2030-565T>A
ENST00000689011.1:c.1214T>A
ENST00000003084.11:c.4372T>A MANE Select	ENSP00000003084.6:p.Cys1458Ser
ENST00000647720.1:c.1822T>A
ENST00000649781.1:c.4189T>A	ENSP00000497203.1:p.Cys1397Ser
ENST00000003084.10:c.4372T>A	ENSP00000003084.6:p.Cys1458Ser
ENST00000426809.5:c.4282T>A	ENSP00000389119.1:p.Cys1428Ser
ENST00000600166.1:c.368+1473T>A
NM_000492.3:c.4372T>A , LRG_663t1:c.4372T>A	NP_000483.3:p.Cys1458Ser
XM_011515751.1:c.4462T>A	XP_011514053.1:p.Cys1488Ser
XM_011515753.1:c.4129T>A	XP_011514055.1:p.Cys1377Ser
XM_011515754.1:c.4129T>A	XP_011514056.1:p.Cys1377Ser
NM_000492.4:c.4372T>A MANE Select	NP_000483.3:p.Cys1458Ser