Canonical Allele Identifier: CA457229787

Gene: CFTR

Linked Data

• gnomAD v4: 7-117652862-A-T
• MyVariant Identifiers: chr7:g.117292916A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652862A>T , CM000669.2:g.117652862A>T	GRCh38
NC_000007.13:g.117292916A>T , CM000669.1:g.117292916A>T	GRCh37
NC_000007.12:g.117080152A>T	NCBI36
NG_016465.4:g.192079A>T , LRG_663:g.192079A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*103A>T	ENSP00000497673.2:n.*103A>T
ENST00000647978.2:c.*3608A>T	ENSP00000497658.1:n.*3608A>T
ENST00000649781.2:c.3711A>T	ENSP00000497203.1:p.Gly1237=
ENST00000685018.2:c.*107A>T	ENSP00000510194.2:n.*107A>T
ENST00000687278.2:c.*547A>T	ENSP00000509593.2:n.*547A>T
ENST00000699585.1:c.*103A>T	ENSP00000514456.1:n.*103A>T
ENST00000699598.1:c.3894A>T	ENSP00000514467.1:p.Gly1298=
ENST00000699599.1:c.*107A>T	ENSP00000514468.1:n.*107A>T
ENST00000699600.1:c.*555A>T	ENSP00000514469.1:n.*555A>T
ENST00000699601.1:c.*2269A>T	ENSP00000514470.1:n.*2269A>T
ENST00000699602.1:c.3888A>T	ENSP00000514471.1:p.Gly1296=
ENST00000699604.1:c.*3718A>T	ENSP00000514472.1:n.*3718A>T
ENST00000699605.1:c.3468A>T	ENSP00000514473.1:p.Gly1156=
ENST00000699606.1:n.2062A>T
ENST00000685018.1:c.758A>T	ENSP00000510194.1:n.758A>T
ENST00000687278.1:c.1681A>T	ENSP00000509593.1:n.1681A>T
ENST00000689011.1:c.476A>T
ENST00000003084.11:c.3894A>T MANE Select	ENSP00000003084.6:p.Gly1298=
ENST00000647720.1:c.1344A>T
ENST00000649781.1:c.3711A>T	ENSP00000497203.1:p.Gly1237=
ENST00000003084.10:c.3894A>T	ENSP00000003084.6:p.Gly1298=
ENST00000426809.5:c.3804A>T	ENSP00000389119.1:p.Gly1268=
ENST00000600166.1:c.20A>T
NM_000492.3:c.3894A>T , LRG_663t1:c.3894A>T	NP_000483.3:p.Gly1298=
XM_011515751.1:c.3984A>T	XP_011514053.1:p.Gly1328=
XM_011515752.1:c.3984A>T	XP_011514054.1:p.Gly1328=
XM_011515753.1:c.3651A>T	XP_011514055.1:p.Gly1217=
XM_011515754.1:c.3651A>T	XP_011514056.1:p.Gly1217=
NM_000492.4:c.3894A>T MANE Select	NP_000483.3:p.Gly1298=