Canonical Allele Identifier: CA368993561

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1725255
• ClinVar RCV Id: RCV002308314
• MyVariant Identifiers: chr7:g.117254727T>A (hg19) ; chr7:g.117614673T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614673T>A , CM000669.2:g.117614673T>A	GRCh38
NC_000007.13:g.117254727T>A , CM000669.1:g.117254727T>A	GRCh37
NC_000007.12:g.117041963T>A	NCBI36
NG_016465.4:g.153890T>A , LRG_663:g.153890T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3428T>A	ENSP00000497673.2:p.Leu1143Ter
ENST00000647978.2:c.*3142T>A	ENSP00000497658.1:n.*3142T>A
ENST00000649781.2:c.3245T>A	ENSP00000497203.1:p.Leu1082Ter
ENST00000685018.2:c.3428T>A	ENSP00000510194.2:p.Leu1143Ter
ENST00000687278.2:c.3428T>A	ENSP00000509593.2:p.Leu1143Ter
ENST00000699585.1:c.3428T>A	ENSP00000514456.1:p.Leu1143Ter
ENST00000699598.1:c.3428T>A	ENSP00000514467.1:p.Leu1143Ter
ENST00000699599.1:c.3428T>A	ENSP00000514468.1:p.Leu1143Ter
ENST00000699600.1:c.3428T>A	ENSP00000514469.1:p.Leu1143Ter
ENST00000699601.1:c.*1803T>A	ENSP00000514470.1:n.*1803T>A
ENST00000699602.1:c.3422T>A	ENSP00000514471.1:p.Leu1141Ter
ENST00000699604.1:c.*3252T>A	ENSP00000514472.1:n.*3252T>A
ENST00000699605.1:c.3002T>A	ENSP00000514473.1:p.Leu1001Ter
ENST00000685018.1:c.176T>A	ENSP00000510194.1:p.Leu59Ter
ENST00000687278.1:c.1019T>A	ENSP00000509593.1:p.Leu340Ter
ENST00000689011.1:c.10T>A
ENST00000003084.11:c.3428T>A MANE Select	ENSP00000003084.6:p.Leu1143Ter
ENST00000647720.1:c.1078T>A
ENST00000648260.1:c.2210T>A	ENSP00000497957.1:p.Leu737Ter
ENST00000649406.1:c.3245T>A	ENSP00000497965.1:p.Leu1082Ter
ENST00000649781.1:c.3245T>A	ENSP00000497203.1:p.Leu1082Ter
ENST00000003084.10:c.3428T>A	ENSP00000003084.6:p.Leu1143Ter
ENST00000426809.5:c.3338T>A	ENSP00000389119.1:p.Leu1113Ter
ENST00000468795.1:c.253T>A
NM_000492.3:c.3428T>A , LRG_663t1:c.3428T>A	NP_000483.3:p.Leu1143Ter
XM_011515751.1:c.3518T>A	XP_011514053.1:p.Leu1173Ter
XM_011515752.1:c.3518T>A	XP_011514054.1:p.Leu1173Ter
XM_011515753.1:c.3185T>A	XP_011514055.1:p.Leu1062Ter
XM_011515754.1:c.3185T>A	XP_011514056.1:p.Leu1062Ter
NM_000492.4:c.3428T>A MANE Select	NP_000483.3:p.Leu1143Ter