Canonical Allele Identifier: CA368981838

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304755C>T (hg19) ; chr7:g.117664701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664701C>T , CM000669.2:g.117664701C>T	GRCh38
NC_000007.13:g.117304755C>T , CM000669.1:g.117304755C>T	GRCh37
NC_000007.12:g.117091991C>T	NCBI36
NG_016465.4:g.203918C>T , LRG_663:g.203918C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*186C>T	ENSP00000497673.2:n.*186C>T
ENST00000647978.2:c.*3691C>T	ENSP00000497658.1:n.*3691C>T
ENST00000649781.2:c.3794C>T	ENSP00000497203.1:p.Ser1265Phe
ENST00000685018.2:c.*190C>T	ENSP00000510194.2:n.*190C>T
ENST00000687278.2:c.*630C>T	ENSP00000509593.2:n.*630C>T
ENST00000699585.1:c.*186C>T	ENSP00000514456.1:n.*186C>T
ENST00000699598.1:c.3977C>T	ENSP00000514467.1:p.Ser1326Phe
ENST00000699599.1:c.*190C>T	ENSP00000514468.1:n.*190C>T
ENST00000699600.1:c.*638C>T	ENSP00000514469.1:n.*638C>T
ENST00000699601.1:c.*2352C>T	ENSP00000514470.1:n.*2352C>T
ENST00000699602.1:c.3971C>T	ENSP00000514471.1:p.Ser1324Phe
ENST00000699604.1:c.*3801C>T	ENSP00000514472.1:n.*3801C>T
ENST00000699605.1:c.3551C>T	ENSP00000514473.1:p.Ser1184Phe
ENST00000699606.1:n.2145C>T
ENST00000685018.1:c.841C>T	ENSP00000510194.1:n.841C>T
ENST00000687278.1:c.1764C>T	ENSP00000509593.1:n.1764C>T
ENST00000689011.1:c.559C>T
ENST00000003084.11:c.3977C>T MANE Select	ENSP00000003084.6:p.Ser1326Phe
ENST00000647720.1:c.1427C>T
ENST00000649781.1:c.3794C>T	ENSP00000497203.1:p.Ser1265Phe
ENST00000003084.10:c.3977C>T	ENSP00000003084.6:p.Ser1326Phe
ENST00000426809.5:c.3887C>T	ENSP00000389119.1:p.Ser1296Phe
ENST00000600166.1:c.103C>T
NM_000492.3:c.3977C>T , LRG_663t1:c.3977C>T	NP_000483.3:p.Ser1326Phe
XM_011515751.1:c.4067C>T	XP_011514053.1:p.Ser1356Phe
XM_011515752.1:c.4067C>T	XP_011514054.1:p.Ser1356Phe
XM_011515753.1:c.3734C>T	XP_011514055.1:p.Ser1245Phe
XM_011515754.1:c.3734C>T	XP_011514056.1:p.Ser1245Phe
NM_000492.4:c.3977C>T MANE Select	NP_000483.3:p.Ser1326Phe