Canonical Allele Identifier: CA457230443

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304861C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664807C>A , CM000669.2:g.117664807C>A	GRCh38
NC_000007.13:g.117304861C>A , CM000669.1:g.117304861C>A	GRCh37
NC_000007.12:g.117092097C>A	NCBI36
NG_016465.4:g.204024C>A , LRG_663:g.204024C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*292C>A	ENSP00000497673.2:n.*292C>A
ENST00000647978.2:c.*3797C>A	ENSP00000497658.1:n.*3797C>A
ENST00000649781.2:c.3900C>A	ENSP00000497203.1:p.Leu1300=
ENST00000685018.2:c.*296C>A	ENSP00000510194.2:n.*296C>A
ENST00000687278.2:c.*736C>A	ENSP00000509593.2:n.*736C>A
ENST00000699585.1:c.*292C>A	ENSP00000514456.1:n.*292C>A
ENST00000699598.1:c.4083C>A	ENSP00000514467.1:p.Leu1361=
ENST00000699599.1:c.*296C>A	ENSP00000514468.1:n.*296C>A
ENST00000699600.1:c.*744C>A	ENSP00000514469.1:n.*744C>A
ENST00000699601.1:c.*2458C>A	ENSP00000514470.1:n.*2458C>A
ENST00000699602.1:c.4077C>A	ENSP00000514471.1:p.Leu1359=
ENST00000699604.1:c.*3907C>A	ENSP00000514472.1:n.*3907C>A
ENST00000699605.1:c.3657C>A	ENSP00000514473.1:p.Leu1219=
ENST00000699606.1:n.2251C>A
ENST00000685018.1:c.947C>A	ENSP00000510194.1:n.947C>A
ENST00000687278.1:c.1870C>A	ENSP00000509593.1:n.1870C>A
ENST00000689011.1:c.665C>A
ENST00000003084.11:c.4083C>A MANE Select	ENSP00000003084.6:p.Leu1361=
ENST00000647720.1:c.1533C>A
ENST00000649781.1:c.3900C>A	ENSP00000497203.1:p.Leu1300=
ENST00000003084.10:c.4083C>A	ENSP00000003084.6:p.Leu1361=
ENST00000426809.5:c.3993C>A	ENSP00000389119.1:p.Leu1331=
ENST00000600166.1:c.209C>A
NM_000492.3:c.4083C>A , LRG_663t1:c.4083C>A	NP_000483.3:p.Leu1361=
XM_011515751.1:c.4173C>A	XP_011514053.1:p.Leu1391=
XM_011515752.1:c.4173C>A	XP_011514054.1:p.Leu1391=
XM_011515753.1:c.3840C>A	XP_011514055.1:p.Leu1280=
XM_011515754.1:c.3840C>A	XP_011514056.1:p.Leu1280=
NM_000492.4:c.4083C>A MANE Select	NP_000483.3:p.Leu1361=