Canonical Allele Identifier: CA457449052

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1136199
• ClinVar RCV Id: RCV001471763
• dbSNP Id: rs1800102
• MyVariant Identifiers: chr7:g.117232327C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592273C>T , CM000669.2:g.117592273C>T	GRCh38
NC_000007.13:g.117232327C>T , CM000669.1:g.117232327C>T	GRCh37
NC_000007.12:g.117019563C>T	NCBI36
NG_016465.4:g.131490C>T , LRG_663:g.131490C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2106C>T	ENSP00000497673.2:p.Leu702=
ENST00000647978.2:c.*1820C>T	ENSP00000497658.1:n.*1820C>T
ENST00000649781.2:c.1923C>T	ENSP00000497203.1:p.Leu641=
ENST00000685018.2:c.2106C>T	ENSP00000510194.2:p.Leu702=
ENST00000687278.2:c.2106C>T	ENSP00000509593.2:p.Leu702=
ENST00000699585.1:c.2106C>T	ENSP00000514456.1:p.Leu702=
ENST00000699598.1:c.2106C>T	ENSP00000514467.1:p.Leu702=
ENST00000699599.1:c.2106C>T	ENSP00000514468.1:p.Leu702=
ENST00000699600.1:c.2106C>T	ENSP00000514469.1:p.Leu702=
ENST00000699601.1:c.*406C>T	ENSP00000514470.1:n.*406C>T
ENST00000699602.1:c.2106C>T	ENSP00000514471.1:p.Leu702=
ENST00000699604.1:c.*1930C>T	ENSP00000514472.1:n.*1930C>T
ENST00000699605.1:c.1680C>T	ENSP00000514473.1:p.Leu560=
ENST00000003084.11:c.2106C>T MANE Select	ENSP00000003084.6:p.Leu702=
ENST00000647978.1:c.*1820C>T	ENSP00000497658.1:n.*1820C>T
ENST00000648260.1:c.1402-10553C>T	ENSP00000497957.1:n.1402-10553C>T
ENST00000649406.1:c.1923C>T	ENSP00000497965.1:p.Leu641=
ENST00000649781.1:c.1923C>T	ENSP00000497203.1:p.Leu641=
ENST00000003084.10:c.2106C>T	ENSP00000003084.6:p.Leu702=
ENST00000426809.5:c.2016C>T	ENSP00000389119.1:p.Leu672=
NM_000492.3:c.2106C>T , LRG_663t1:c.2106C>T	NP_000483.3:p.Leu702=
XM_011515751.1:c.2196C>T	XP_011514053.1:p.Leu732=
XM_011515752.1:c.2196C>T	XP_011514054.1:p.Leu732=
XM_011515753.1:c.1863C>T	XP_011514055.1:p.Leu621=
XM_011515754.1:c.1863C>T	XP_011514056.1:p.Leu621=
NM_000492.4:c.2106C>T MANE Select	NP_000483.3:p.Leu702=