Canonical Allele Identifier: CA368997111

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267705A>T (hg19) ; chr7:g.117627651A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627651A>T , CM000669.2:g.117627651A>T	GRCh38
NC_000007.13:g.117267705A>T , CM000669.1:g.117267705A>T	GRCh37
NC_000007.12:g.117054941A>T	NCBI36
NG_016465.4:g.166868A>T , LRG_663:g.166868A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+81A>T	ENSP00000497673.2:n.3517+81A>T
ENST00000647978.2:c.*3312A>T	ENSP00000497658.1:n.*3312A>T
ENST00000649781.2:c.3415A>T	ENSP00000497203.1:p.Lys1139Ter
ENST00000685018.2:c.3598A>T	ENSP00000510194.2:p.Lys1200Ter
ENST00000687278.2:c.*251A>T	ENSP00000509593.2:n.*251A>T
ENST00000699585.1:c.3517+81A>T	ENSP00000514456.1:n.3517+81A>T
ENST00000699598.1:c.3598A>T	ENSP00000514467.1:p.Lys1200Ter
ENST00000699599.1:c.3598A>T	ENSP00000514468.1:p.Lys1200Ter
ENST00000699600.1:c.*259A>T	ENSP00000514469.1:n.*259A>T
ENST00000699601.1:c.*1973A>T	ENSP00000514470.1:n.*1973A>T
ENST00000699602.1:c.3592A>T	ENSP00000514471.1:p.Lys1198Ter
ENST00000699604.1:c.*3422A>T	ENSP00000514472.1:n.*3422A>T
ENST00000699605.1:c.3172A>T	ENSP00000514473.1:p.Lys1058Ter
ENST00000685018.1:c.346A>T	ENSP00000510194.1:p.Lys116Ter
ENST00000687278.1:c.1385A>T	ENSP00000509593.1:n.1385A>T
ENST00000689011.1:c.180A>T
ENST00000003084.11:c.3598A>T MANE Select	ENSP00000003084.6:p.Lys1200Ter
ENST00000647720.1:c.1167+81A>T
ENST00000648260.1:c.2380A>T	ENSP00000497957.1:p.Lys794Ter
ENST00000649406.1:c.3415A>T	ENSP00000497965.1:p.Lys1139Ter
ENST00000649781.1:c.3415A>T	ENSP00000497203.1:p.Lys1139Ter
ENST00000003084.10:c.3598A>T	ENSP00000003084.6:p.Lys1200Ter
ENST00000426809.5:c.3508A>T	ENSP00000389119.1:p.Lys1170Ter
ENST00000468795.1:c.423A>T
NM_000492.3:c.3598A>T , LRG_663t1:c.3598A>T	NP_000483.3:p.Lys1200Ter
XM_011515751.1:c.3688A>T	XP_011514053.1:p.Lys1230Ter
XM_011515752.1:c.3688A>T	XP_011514054.1:p.Lys1230Ter
XM_011515753.1:c.3355A>T	XP_011514055.1:p.Lys1119Ter
XM_011515754.1:c.3355A>T	XP_011514056.1:p.Lys1119Ter
NM_000492.4:c.3598A>T MANE Select	NP_000483.3:p.Lys1200Ter