Canonical Allele Identifier: CA457228070

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1113631
• ClinVar RCV Id: RCV001441055
• dbSNP Id: rs1792931608
• MyVariant Identifiers: chr7:g.117282515A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642461A>T , CM000669.2:g.117642461A>T	GRCh38
NC_000007.13:g.117282515A>T , CM000669.1:g.117282515A>T	GRCh37
NC_000007.12:g.117069751A>T	NCBI36
NG_016465.4:g.181678A>T , LRG_663:g.181678A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3541A>T	ENSP00000497673.2:p.Ile1181Phe
ENST00000647978.2:c.*3455A>T	ENSP00000497658.1:n.*3455A>T
ENST00000649781.2:c.3558A>T	ENSP00000497203.1:p.Gly1186=
ENST00000685018.2:c.3741A>T	ENSP00000510194.2:p.Gly1247=
ENST00000687278.2:c.*394A>T	ENSP00000509593.2:n.*394A>T
ENST00000699585.1:c.3541A>T	ENSP00000514456.1:p.Ile1181Phe
ENST00000699598.1:c.3741A>T	ENSP00000514467.1:p.Gly1247=
ENST00000699599.1:c.3741A>T	ENSP00000514468.1:p.Gly1247=
ENST00000699600.1:c.*402A>T	ENSP00000514469.1:n.*402A>T
ENST00000699601.1:c.*2116A>T	ENSP00000514470.1:n.*2116A>T
ENST00000699602.1:c.3735A>T	ENSP00000514471.1:p.Gly1245=
ENST00000699604.1:c.*3565A>T	ENSP00000514472.1:n.*3565A>T
ENST00000699605.1:c.3315A>T	ENSP00000514473.1:p.Gly1105=
ENST00000685018.1:c.489A>T	ENSP00000510194.1:p.Gly163=
ENST00000687278.1:c.1528A>T	ENSP00000509593.1:n.1528A>T
ENST00000689011.1:c.323A>T
ENST00000003084.11:c.3741A>T MANE Select	ENSP00000003084.6:p.Gly1247=
ENST00000647720.1:c.1191A>T
ENST00000649781.1:c.3558A>T	ENSP00000497203.1:p.Gly1186=
ENST00000003084.10:c.3741A>T	ENSP00000003084.6:p.Gly1247=
ENST00000426809.5:c.3651A>T	ENSP00000389119.1:p.Gly1217=
NM_000492.3:c.3741A>T , LRG_663t1:c.3741A>T	NP_000483.3:p.Gly1247=
XM_011515751.1:c.3831A>T	XP_011514053.1:p.Gly1277=
XM_011515752.1:c.3831A>T	XP_011514054.1:p.Gly1277=
XM_011515753.1:c.3498A>T	XP_011514055.1:p.Gly1166=
XM_011515754.1:c.3498A>T	XP_011514056.1:p.Gly1166=
NM_000492.4:c.3741A>T MANE Select	NP_000483.3:p.Gly1247=