Canonical Allele Identifier: CA368974987

Gene: CFTR

Linked Data

• ClinVar Variation Id: 813448
• ClinVar RCV Id: RCV001004508 ; RCV003317413 ; RCV003467573
• dbSNP Id: rs1584837090
• MyVariant Identifiers: chr7:g.117282570G>T (hg19) ; chr7:g.117642516G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642516G>T , CM000669.2:g.117642516G>T	GRCh38
NC_000007.13:g.117282570G>T , CM000669.1:g.117282570G>T	GRCh37
NC_000007.12:g.117069806G>T	NCBI36
NG_016465.4:g.181733G>T , LRG_663:g.181733G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*5G>T	ENSP00000497673.2:n.*5G>T
ENST00000647978.2:c.*3510G>T	ENSP00000497658.1:n.*3510G>T
ENST00000649781.2:c.3613G>T	ENSP00000497203.1:p.Glu1205Ter
ENST00000685018.2:c.3796G>T	ENSP00000510194.2:p.Glu1266Ter
ENST00000687278.2:c.*449G>T	ENSP00000509593.2:n.*449G>T
ENST00000699585.1:c.*5G>T	ENSP00000514456.1:n.*5G>T
ENST00000699598.1:c.3796G>T	ENSP00000514467.1:p.Glu1266Ter
ENST00000699599.1:c.3796G>T	ENSP00000514468.1:p.Glu1266Ter
ENST00000699600.1:c.*457G>T	ENSP00000514469.1:n.*457G>T
ENST00000699601.1:c.*2171G>T	ENSP00000514470.1:n.*2171G>T
ENST00000699602.1:c.3790G>T	ENSP00000514471.1:p.Glu1264Ter
ENST00000699604.1:c.*3620G>T	ENSP00000514472.1:n.*3620G>T
ENST00000699605.1:c.3370G>T	ENSP00000514473.1:p.Glu1124Ter
ENST00000685018.1:c.544G>T	ENSP00000510194.1:p.Glu182Ter
ENST00000687278.1:c.1583G>T	ENSP00000509593.1:n.1583G>T
ENST00000689011.1:c.378G>T
ENST00000003084.11:c.3796G>T MANE Select	ENSP00000003084.6:p.Glu1266Ter
ENST00000647720.1:c.1246G>T
ENST00000649781.1:c.3613G>T	ENSP00000497203.1:p.Glu1205Ter
ENST00000003084.10:c.3796G>T	ENSP00000003084.6:p.Glu1266Ter
ENST00000426809.5:c.3706G>T	ENSP00000389119.1:p.Glu1236Ter
NM_000492.3:c.3796G>T , LRG_663t1:c.3796G>T	NP_000483.3:p.Glu1266Ter
XM_011515751.1:c.3886G>T	XP_011514053.1:p.Glu1296Ter
XM_011515752.1:c.3886G>T	XP_011514054.1:p.Glu1296Ter
XM_011515753.1:c.3553G>T	XP_011514055.1:p.Glu1185Ter
XM_011515754.1:c.3553G>T	XP_011514056.1:p.Glu1185Ter
NM_000492.4:c.3796G>T MANE Select	NP_000483.3:p.Glu1266Ter