Canonical Allele Identifier: CA368982452

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304817A>T (hg19) ; chr7:g.117664763A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664763A>T , CM000669.2:g.117664763A>T	GRCh38
NC_000007.13:g.117304817A>T , CM000669.1:g.117304817A>T	GRCh37
NC_000007.12:g.117092053A>T	NCBI36
NG_016465.4:g.203980A>T , LRG_663:g.203980A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*248A>T	ENSP00000497673.2:n.*248A>T
ENST00000647978.2:c.*3753A>T	ENSP00000497658.1:n.*3753A>T
ENST00000649781.2:c.3856A>T	ENSP00000497203.1:p.Ser1286Cys
ENST00000685018.2:c.*252A>T	ENSP00000510194.2:n.*252A>T
ENST00000687278.2:c.*692A>T	ENSP00000509593.2:n.*692A>T
ENST00000699585.1:c.*248A>T	ENSP00000514456.1:n.*248A>T
ENST00000699598.1:c.4039A>T	ENSP00000514467.1:p.Ser1347Cys
ENST00000699599.1:c.*252A>T	ENSP00000514468.1:n.*252A>T
ENST00000699600.1:c.*700A>T	ENSP00000514469.1:n.*700A>T
ENST00000699601.1:c.*2414A>T	ENSP00000514470.1:n.*2414A>T
ENST00000699602.1:c.4033A>T	ENSP00000514471.1:p.Ser1345Cys
ENST00000699604.1:c.*3863A>T	ENSP00000514472.1:n.*3863A>T
ENST00000699605.1:c.3613A>T	ENSP00000514473.1:p.Ser1205Cys
ENST00000699606.1:n.2207A>T
ENST00000685018.1:c.903A>T	ENSP00000510194.1:n.903A>T
ENST00000687278.1:c.1826A>T	ENSP00000509593.1:n.1826A>T
ENST00000689011.1:c.621A>T
ENST00000003084.11:c.4039A>T MANE Select	ENSP00000003084.6:p.Ser1347Cys
ENST00000647720.1:c.1489A>T
ENST00000649781.1:c.3856A>T	ENSP00000497203.1:p.Ser1286Cys
ENST00000003084.10:c.4039A>T	ENSP00000003084.6:p.Ser1347Cys
ENST00000426809.5:c.3949A>T	ENSP00000389119.1:p.Ser1317Cys
ENST00000600166.1:c.165A>T
NM_000492.3:c.4039A>T , LRG_663t1:c.4039A>T	NP_000483.3:p.Ser1347Cys
XM_011515751.1:c.4129A>T	XP_011514053.1:p.Ser1377Cys
XM_011515752.1:c.4129A>T	XP_011514054.1:p.Ser1377Cys
XM_011515753.1:c.3796A>T	XP_011514055.1:p.Ser1266Cys
XM_011515754.1:c.3796A>T	XP_011514056.1:p.Ser1266Cys
NM_000492.4:c.4039A>T MANE Select	NP_000483.3:p.Ser1347Cys