Canonical Allele Identifier: CA368982701

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304854C>T (hg19) ; chr7:g.117664800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664800C>T , CM000669.2:g.117664800C>T	GRCh38
NC_000007.13:g.117304854C>T , CM000669.1:g.117304854C>T	GRCh37
NC_000007.12:g.117092090C>T	NCBI36
NG_016465.4:g.204017C>T , LRG_663:g.204017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*285C>T	ENSP00000497673.2:n.*285C>T
ENST00000647978.2:c.*3790C>T	ENSP00000497658.1:n.*3790C>T
ENST00000649781.2:c.3893C>T	ENSP00000497203.1:p.Ser1298Phe
ENST00000685018.2:c.*289C>T	ENSP00000510194.2:n.*289C>T
ENST00000687278.2:c.*729C>T	ENSP00000509593.2:n.*729C>T
ENST00000699585.1:c.*285C>T	ENSP00000514456.1:n.*285C>T
ENST00000699598.1:c.4076C>T	ENSP00000514467.1:p.Ser1359Phe
ENST00000699599.1:c.*289C>T	ENSP00000514468.1:n.*289C>T
ENST00000699600.1:c.*737C>T	ENSP00000514469.1:n.*737C>T
ENST00000699601.1:c.*2451C>T	ENSP00000514470.1:n.*2451C>T
ENST00000699602.1:c.4070C>T	ENSP00000514471.1:p.Ser1357Phe
ENST00000699604.1:c.*3900C>T	ENSP00000514472.1:n.*3900C>T
ENST00000699605.1:c.3650C>T	ENSP00000514473.1:p.Ser1217Phe
ENST00000699606.1:n.2244C>T
ENST00000685018.1:c.940C>T	ENSP00000510194.1:n.940C>T
ENST00000687278.1:c.1863C>T	ENSP00000509593.1:n.1863C>T
ENST00000689011.1:c.658C>T
ENST00000003084.11:c.4076C>T MANE Select	ENSP00000003084.6:p.Ser1359Phe
ENST00000647720.1:c.1526C>T
ENST00000649781.1:c.3893C>T	ENSP00000497203.1:p.Ser1298Phe
ENST00000003084.10:c.4076C>T	ENSP00000003084.6:p.Ser1359Phe
ENST00000426809.5:c.3986C>T	ENSP00000389119.1:p.Ser1329Phe
ENST00000600166.1:c.202C>T
NM_000492.3:c.4076C>T , LRG_663t1:c.4076C>T	NP_000483.3:p.Ser1359Phe
XM_011515751.1:c.4166C>T	XP_011514053.1:p.Ser1389Phe
XM_011515752.1:c.4166C>T	XP_011514054.1:p.Ser1389Phe
XM_011515753.1:c.3833C>T	XP_011514055.1:p.Ser1278Phe
XM_011515754.1:c.3833C>T	XP_011514056.1:p.Ser1278Phe
NM_000492.4:c.4076C>T MANE Select	NP_000483.3:p.Ser1359Phe