Canonical Allele Identifier: CA368995967

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267586T>A (hg19) ; chr7:g.117627532T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627532T>A , CM000669.2:g.117627532T>A	GRCh38
NC_000007.13:g.117267586T>A , CM000669.1:g.117267586T>A	GRCh37
NC_000007.12:g.117054822T>A	NCBI36
NG_016465.4:g.166749T>A , LRG_663:g.166749T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3479T>A	ENSP00000497673.2:p.Val1160Glu
ENST00000647978.2:c.*3193T>A	ENSP00000497658.1:n.*3193T>A
ENST00000649781.2:c.3296T>A	ENSP00000497203.1:p.Val1099Glu
ENST00000685018.2:c.3479T>A	ENSP00000510194.2:p.Val1160Glu
ENST00000687278.2:c.*132T>A	ENSP00000509593.2:n.*132T>A
ENST00000699585.1:c.3479T>A	ENSP00000514456.1:p.Val1160Glu
ENST00000699598.1:c.3479T>A	ENSP00000514467.1:p.Val1160Glu
ENST00000699599.1:c.3479T>A	ENSP00000514468.1:p.Val1160Glu
ENST00000699600.1:c.*140T>A	ENSP00000514469.1:n.*140T>A
ENST00000699601.1:c.*1854T>A	ENSP00000514470.1:n.*1854T>A
ENST00000699602.1:c.3473T>A	ENSP00000514471.1:p.Val1158Glu
ENST00000699604.1:c.*3303T>A	ENSP00000514472.1:n.*3303T>A
ENST00000699605.1:c.3053T>A	ENSP00000514473.1:p.Val1018Glu
ENST00000685018.1:c.227T>A	ENSP00000510194.1:p.Val76Glu
ENST00000687278.1:c.1266T>A	ENSP00000509593.1:n.1266T>A
ENST00000689011.1:c.61T>A
ENST00000003084.11:c.3479T>A MANE Select	ENSP00000003084.6:p.Val1160Glu
ENST00000647720.1:c.1129T>A
ENST00000648260.1:c.2261T>A	ENSP00000497957.1:p.Val754Glu
ENST00000649406.1:c.3296T>A	ENSP00000497965.1:p.Val1099Glu
ENST00000649781.1:c.3296T>A	ENSP00000497203.1:p.Val1099Glu
ENST00000003084.10:c.3479T>A	ENSP00000003084.6:p.Val1160Glu
ENST00000426809.5:c.3389T>A	ENSP00000389119.1:p.Val1130Glu
ENST00000468795.1:c.304T>A
NM_000492.3:c.3479T>A , LRG_663t1:c.3479T>A	NP_000483.3:p.Val1160Glu
XM_011515751.1:c.3569T>A	XP_011514053.1:p.Val1190Glu
XM_011515752.1:c.3569T>A	XP_011514054.1:p.Val1190Glu
XM_011515753.1:c.3236T>A	XP_011514055.1:p.Val1079Glu
XM_011515754.1:c.3236T>A	XP_011514056.1:p.Val1079Glu
NM_000492.4:c.3479T>A MANE Select	NP_000483.3:p.Val1160Glu