Canonical Allele Identifier: CA368993425

Gene: CFTR

Linked Data

• ClinVar Variation Id: 853799
• ClinVar RCV Id: RCV001058685
• dbSNP Id: rs1792456313
• MyVariant Identifiers: chr7:g.117254703T>A (hg19) ; chr7:g.117614649T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614649T>A , CM000669.2:g.117614649T>A	GRCh38
NC_000007.13:g.117254703T>A , CM000669.1:g.117254703T>A	GRCh37
NC_000007.12:g.117041939T>A	NCBI36
NG_016465.4:g.153866T>A , LRG_663:g.153866T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3404T>A	ENSP00000497673.2:p.Leu1135Ter
ENST00000647978.2:c.*3118T>A	ENSP00000497658.1:n.*3118T>A
ENST00000649781.2:c.3221T>A	ENSP00000497203.1:p.Leu1074Ter
ENST00000685018.2:c.3404T>A	ENSP00000510194.2:p.Leu1135Ter
ENST00000687278.2:c.3404T>A	ENSP00000509593.2:p.Leu1135Ter
ENST00000699585.1:c.3404T>A	ENSP00000514456.1:p.Leu1135Ter
ENST00000699598.1:c.3404T>A	ENSP00000514467.1:p.Leu1135Ter
ENST00000699599.1:c.3404T>A	ENSP00000514468.1:p.Leu1135Ter
ENST00000699600.1:c.3404T>A	ENSP00000514469.1:p.Leu1135Ter
ENST00000699601.1:c.*1779T>A	ENSP00000514470.1:n.*1779T>A
ENST00000699602.1:c.3398T>A	ENSP00000514471.1:p.Leu1133Ter
ENST00000699604.1:c.*3228T>A	ENSP00000514472.1:n.*3228T>A
ENST00000699605.1:c.2978T>A	ENSP00000514473.1:p.Leu993Ter
ENST00000685018.1:c.152T>A	ENSP00000510194.1:p.Leu51Ter
ENST00000687278.1:c.995T>A	ENSP00000509593.1:p.Leu332Ter
ENST00000003084.11:c.3404T>A MANE Select	ENSP00000003084.6:p.Leu1135Ter
ENST00000647720.1:c.1054T>A
ENST00000648260.1:c.2186T>A	ENSP00000497957.1:p.Leu729Ter
ENST00000649406.1:c.3221T>A	ENSP00000497965.1:p.Leu1074Ter
ENST00000649781.1:c.3221T>A	ENSP00000497203.1:p.Leu1074Ter
ENST00000003084.10:c.3404T>A	ENSP00000003084.6:p.Leu1135Ter
ENST00000426809.5:c.3314T>A	ENSP00000389119.1:p.Leu1105Ter
ENST00000468795.1:c.229T>A
NM_000492.3:c.3404T>A , LRG_663t1:c.3404T>A	NP_000483.3:p.Leu1135Ter
XM_011515751.1:c.3494T>A	XP_011514053.1:p.Leu1165Ter
XM_011515752.1:c.3494T>A	XP_011514054.1:p.Leu1165Ter
XM_011515753.1:c.3161T>A	XP_011514055.1:p.Leu1054Ter
XM_011515754.1:c.3161T>A	XP_011514056.1:p.Leu1054Ter
NM_000492.4:c.3404T>A MANE Select	NP_000483.3:p.Leu1135Ter