Canonical Allele Identifier: CA457231421

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1733180
• ClinVar RCV Id: RCV002455293
• COSMIC: COSM1447502
• MyVariant Identifiers: chr7:g.117267716C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627662C>T , CM000669.2:g.117627662C>T	GRCh38
NC_000007.13:g.117267716C>T , CM000669.1:g.117267716C>T	GRCh37
NC_000007.12:g.117054952C>T	NCBI36
NG_016465.4:g.166879C>T , LRG_663:g.166879C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+92C>T	ENSP00000497673.2:n.3517+92C>T
ENST00000647978.2:c.*3323C>T	ENSP00000497658.1:n.*3323C>T
ENST00000649781.2:c.3426C>T	ENSP00000497203.1:p.Ile1142=
ENST00000685018.2:c.3609C>T	ENSP00000510194.2:p.Ile1203=
ENST00000687278.2:c.*262C>T	ENSP00000509593.2:n.*262C>T
ENST00000699585.1:c.3517+92C>T	ENSP00000514456.1:n.3517+92C>T
ENST00000699598.1:c.3609C>T	ENSP00000514467.1:p.Ile1203=
ENST00000699599.1:c.3609C>T	ENSP00000514468.1:p.Ile1203=
ENST00000699600.1:c.*270C>T	ENSP00000514469.1:n.*270C>T
ENST00000699601.1:c.*1984C>T	ENSP00000514470.1:n.*1984C>T
ENST00000699602.1:c.3603C>T	ENSP00000514471.1:p.Ile1201=
ENST00000699604.1:c.*3433C>T	ENSP00000514472.1:n.*3433C>T
ENST00000699605.1:c.3183C>T	ENSP00000514473.1:p.Ile1061=
ENST00000685018.1:c.357C>T	ENSP00000510194.1:p.Ile119=
ENST00000687278.1:c.1396C>T	ENSP00000509593.1:n.1396C>T
ENST00000689011.1:c.191C>T
ENST00000003084.11:c.3609C>T MANE Select	ENSP00000003084.6:p.Ile1203=
ENST00000647720.1:c.1167+92C>T
ENST00000648260.1:c.2391C>T	ENSP00000497957.1:p.Ile797=
ENST00000649406.1:c.3426C>T	ENSP00000497965.1:p.Ile1142=
ENST00000649781.1:c.3426C>T	ENSP00000497203.1:p.Ile1142=
ENST00000003084.10:c.3609C>T	ENSP00000003084.6:p.Ile1203=
ENST00000426809.5:c.3519C>T	ENSP00000389119.1:p.Ile1173=
ENST00000468795.1:c.434C>T
NM_000492.3:c.3609C>T , LRG_663t1:c.3609C>T	NP_000483.3:p.Ile1203=
XM_011515751.1:c.3699C>T	XP_011514053.1:p.Ile1233=
XM_011515752.1:c.3699C>T	XP_011514054.1:p.Ile1233=
XM_011515753.1:c.3366C>T	XP_011514055.1:p.Ile1122=
XM_011515754.1:c.3366C>T	XP_011514056.1:p.Ile1122=
NM_000492.4:c.3609C>T MANE Select	NP_000483.3:p.Ile1203=