Canonical Allele Identifier: CA457228056

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282497C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642443C>G , CM000669.2:g.117642443C>G	GRCh38
NC_000007.13:g.117282497C>G , CM000669.1:g.117282497C>G	GRCh37
NC_000007.12:g.117069733C>G	NCBI36
NG_016465.4:g.181660C>G , LRG_663:g.181660C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3523C>G	ENSP00000497673.2:p.Pro1175Ala
ENST00000647978.2:c.*3437C>G	ENSP00000497658.1:n.*3437C>G
ENST00000649781.2:c.3540C>G	ENSP00000497203.1:p.Gly1180=
ENST00000685018.2:c.3723C>G	ENSP00000510194.2:p.Gly1241=
ENST00000687278.2:c.*376C>G	ENSP00000509593.2:n.*376C>G
ENST00000699585.1:c.3523C>G	ENSP00000514456.1:p.Pro1175Ala
ENST00000699598.1:c.3723C>G	ENSP00000514467.1:p.Gly1241=
ENST00000699599.1:c.3723C>G	ENSP00000514468.1:p.Gly1241=
ENST00000699600.1:c.*384C>G	ENSP00000514469.1:n.*384C>G
ENST00000699601.1:c.*2098C>G	ENSP00000514470.1:n.*2098C>G
ENST00000699602.1:c.3717C>G	ENSP00000514471.1:p.Gly1239=
ENST00000699604.1:c.*3547C>G	ENSP00000514472.1:n.*3547C>G
ENST00000699605.1:c.3297C>G	ENSP00000514473.1:p.Gly1099=
ENST00000685018.1:c.471C>G	ENSP00000510194.1:p.Gly157=
ENST00000687278.1:c.1510C>G	ENSP00000509593.1:n.1510C>G
ENST00000689011.1:c.305C>G
ENST00000003084.11:c.3723C>G MANE Select	ENSP00000003084.6:p.Gly1241=
ENST00000647720.1:c.1173C>G
ENST00000649781.1:c.3540C>G	ENSP00000497203.1:p.Gly1180=
ENST00000003084.10:c.3723C>G	ENSP00000003084.6:p.Gly1241=
ENST00000426809.5:c.3633C>G	ENSP00000389119.1:p.Gly1211=
NM_000492.3:c.3723C>G , LRG_663t1:c.3723C>G	NP_000483.3:p.Gly1241=
XM_011515751.1:c.3813C>G	XP_011514053.1:p.Gly1271=
XM_011515752.1:c.3813C>G	XP_011514054.1:p.Gly1271=
XM_011515753.1:c.3480C>G	XP_011514055.1:p.Gly1160=
XM_011515754.1:c.3480C>G	XP_011514056.1:p.Gly1160=
NM_000492.4:c.3723C>G MANE Select	NP_000483.3:p.Gly1241=