Canonical Allele Identifier: CA368992527

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117251815T>A (hg19) ; chr7:g.117611761T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611761T>A , CM000669.2:g.117611761T>A	GRCh38
NC_000007.13:g.117251815T>A , CM000669.1:g.117251815T>A	GRCh37
NC_000007.12:g.117039051T>A	NCBI36
NG_016465.4:g.150978T>A , LRG_663:g.150978T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3320T>A	ENSP00000497673.2:p.Phe1107Tyr
ENST00000647978.2:c.*3034T>A	ENSP00000497658.1:n.*3034T>A
ENST00000649781.2:c.3137T>A	ENSP00000497203.1:p.Phe1046Tyr
ENST00000685018.2:c.3320T>A	ENSP00000510194.2:p.Phe1107Tyr
ENST00000687278.2:c.3320T>A	ENSP00000509593.2:p.Phe1107Tyr
ENST00000699585.1:c.3320T>A	ENSP00000514456.1:p.Phe1107Tyr
ENST00000699598.1:c.3320T>A	ENSP00000514467.1:p.Phe1107Tyr
ENST00000699599.1:c.3320T>A	ENSP00000514468.1:p.Phe1107Tyr
ENST00000699600.1:c.3320T>A	ENSP00000514469.1:p.Phe1107Tyr
ENST00000699601.1:c.*1620T>A	ENSP00000514470.1:n.*1620T>A
ENST00000699602.1:c.3320T>A	ENSP00000514471.1:p.Phe1107Tyr
ENST00000699604.1:c.*3144T>A	ENSP00000514472.1:n.*3144T>A
ENST00000699605.1:c.2894T>A	ENSP00000514473.1:p.Phe965Tyr
ENST00000685018.1:c.68T>A	ENSP00000510194.1:p.Phe23Tyr
ENST00000687278.1:c.911T>A	ENSP00000509593.1:p.Phe304Tyr
ENST00000003084.11:c.3320T>A MANE Select	ENSP00000003084.6:p.Phe1107Tyr
ENST00000647720.1:c.970T>A
ENST00000648260.1:c.2102T>A	ENSP00000497957.1:p.Phe701Tyr
ENST00000649406.1:c.3137T>A	ENSP00000497965.1:p.Phe1046Tyr
ENST00000649781.1:c.3137T>A	ENSP00000497203.1:p.Phe1046Tyr
ENST00000003084.10:c.3320T>A	ENSP00000003084.6:p.Phe1107Tyr
ENST00000426809.5:c.3230T>A	ENSP00000389119.1:p.Phe1077Tyr
ENST00000468795.1:c.145T>A
NM_000492.3:c.3320T>A , LRG_663t1:c.3320T>A	NP_000483.3:p.Phe1107Tyr
XM_011515751.1:c.3410T>A	XP_011514053.1:p.Phe1137Tyr
XM_011515752.1:c.3410T>A	XP_011514054.1:p.Phe1137Tyr
XM_011515753.1:c.3077T>A	XP_011514055.1:p.Phe1026Tyr
XM_011515754.1:c.3077T>A	XP_011514056.1:p.Phe1026Tyr
NM_000492.4:c.3320T>A MANE Select	NP_000483.3:p.Phe1107Tyr