Canonical Allele Identifier: CA368974444

Gene: CFTR

Linked Data

• ClinVar Variation Id: 618938
• ClinVar RCV Id: RCV000757841
• dbSNP Id: rs1562923164
• MyVariant Identifiers: chr7:g.117282502T>A (hg19) ; chr7:g.117642448T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642448T>A , CM000669.2:g.117642448T>A	GRCh38
NC_000007.13:g.117282502T>A , CM000669.1:g.117282502T>A	GRCh37
NC_000007.12:g.117069738T>A	NCBI36
NG_016465.4:g.181665T>A , LRG_663:g.181665T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3528T>A	ENSP00000497673.2:p.Leu1176=
ENST00000647978.2:c.*3442T>A	ENSP00000497658.1:n.*3442T>A
ENST00000649781.2:c.3545T>A	ENSP00000497203.1:p.Leu1182Ter
ENST00000685018.2:c.3728T>A	ENSP00000510194.2:p.Leu1243Ter
ENST00000687278.2:c.*381T>A	ENSP00000509593.2:n.*381T>A
ENST00000699585.1:c.3528T>A	ENSP00000514456.1:p.Leu1176=
ENST00000699598.1:c.3728T>A	ENSP00000514467.1:p.Leu1243Ter
ENST00000699599.1:c.3728T>A	ENSP00000514468.1:p.Leu1243Ter
ENST00000699600.1:c.*389T>A	ENSP00000514469.1:n.*389T>A
ENST00000699601.1:c.*2103T>A	ENSP00000514470.1:n.*2103T>A
ENST00000699602.1:c.3722T>A	ENSP00000514471.1:p.Leu1241Ter
ENST00000699604.1:c.*3552T>A	ENSP00000514472.1:n.*3552T>A
ENST00000699605.1:c.3302T>A	ENSP00000514473.1:p.Leu1101Ter
ENST00000685018.1:c.476T>A	ENSP00000510194.1:p.Leu159Ter
ENST00000687278.1:c.1515T>A	ENSP00000509593.1:n.1515T>A
ENST00000689011.1:c.310T>A
ENST00000003084.11:c.3728T>A MANE Select	ENSP00000003084.6:p.Leu1243Ter
ENST00000647720.1:c.1178T>A
ENST00000649781.1:c.3545T>A	ENSP00000497203.1:p.Leu1182Ter
ENST00000003084.10:c.3728T>A	ENSP00000003084.6:p.Leu1243Ter
ENST00000426809.5:c.3638T>A	ENSP00000389119.1:p.Leu1213Ter
NM_000492.3:c.3728T>A , LRG_663t1:c.3728T>A	NP_000483.3:p.Leu1243Ter
XM_011515751.1:c.3818T>A	XP_011514053.1:p.Leu1273Ter
XM_011515752.1:c.3818T>A	XP_011514054.1:p.Leu1273Ter
XM_011515753.1:c.3485T>A	XP_011514055.1:p.Leu1162Ter
XM_011515754.1:c.3485T>A	XP_011514056.1:p.Leu1162Ter
NM_000492.4:c.3728T>A MANE Select	NP_000483.3:p.Leu1243Ter