Canonical Allele Identifier: CA368995932

Gene: CFTR

Linked Data

• ClinVar Variation Id: 3143846
• ClinVar RCV Id: RCV004436652
• MyVariant Identifiers: chr7:g.117267580G>T (hg19) ; chr7:g.117627526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627526G>T , CM000669.2:g.117627526G>T	GRCh38
NC_000007.13:g.117267580G>T , CM000669.1:g.117267580G>T	GRCh37
NC_000007.12:g.117054816G>T	NCBI36
NG_016465.4:g.166743G>T , LRG_663:g.166743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3473G>T	ENSP00000497673.2:p.Arg1158Leu
ENST00000647978.2:c.*3187G>T	ENSP00000497658.1:n.*3187G>T
ENST00000649781.2:c.3290G>T	ENSP00000497203.1:p.Arg1097Leu
ENST00000685018.2:c.3473G>T	ENSP00000510194.2:p.Arg1158Leu
ENST00000687278.2:c.*126G>T	ENSP00000509593.2:n.*126G>T
ENST00000699585.1:c.3473G>T	ENSP00000514456.1:p.Arg1158Leu
ENST00000699598.1:c.3473G>T	ENSP00000514467.1:p.Arg1158Leu
ENST00000699599.1:c.3473G>T	ENSP00000514468.1:p.Arg1158Leu
ENST00000699600.1:c.*134G>T	ENSP00000514469.1:n.*134G>T
ENST00000699601.1:c.*1848G>T	ENSP00000514470.1:n.*1848G>T
ENST00000699602.1:c.3467G>T	ENSP00000514471.1:p.Arg1156Leu
ENST00000699604.1:c.*3297G>T	ENSP00000514472.1:n.*3297G>T
ENST00000699605.1:c.3047G>T	ENSP00000514473.1:p.Arg1016Leu
ENST00000685018.1:c.221G>T	ENSP00000510194.1:p.Arg74Leu
ENST00000687278.1:c.1260G>T	ENSP00000509593.1:n.1260G>T
ENST00000689011.1:c.55G>T
ENST00000003084.11:c.3473G>T MANE Select	ENSP00000003084.6:p.Arg1158Leu
ENST00000647720.1:c.1123G>T
ENST00000648260.1:c.2255G>T	ENSP00000497957.1:p.Arg752Leu
ENST00000649406.1:c.3290G>T	ENSP00000497965.1:p.Arg1097Leu
ENST00000649781.1:c.3290G>T	ENSP00000497203.1:p.Arg1097Leu
ENST00000003084.10:c.3473G>T	ENSP00000003084.6:p.Arg1158Leu
ENST00000426809.5:c.3383G>T	ENSP00000389119.1:p.Arg1128Leu
ENST00000468795.1:c.298G>T
NM_000492.3:c.3473G>T , LRG_663t1:c.3473G>T	NP_000483.3:p.Arg1158Leu
XM_011515751.1:c.3563G>T	XP_011514053.1:p.Arg1188Leu
XM_011515752.1:c.3563G>T	XP_011514054.1:p.Arg1188Leu
XM_011515753.1:c.3230G>T	XP_011514055.1:p.Arg1077Leu
XM_011515754.1:c.3230G>T	XP_011514056.1:p.Arg1077Leu
NM_000492.4:c.3473G>T MANE Select	NP_000483.3:p.Arg1158Leu