Canonical Allele Identifier: CA1737423020

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665556C= , CM000669.2:g.117665556C=	GRCh38
NC_000007.13:g.117305610C= , CM000669.1:g.117305610C=	GRCh37
NC_000007.12:g.117092846C=	NCBI36
NG_016465.4:g.204773C= , LRG_663:g.204773C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4234C= MANE Select	NP_000483.3:p.Gln1412=
ENST00000003084.11:c.4234C= MANE Select	ENSP00000003084.6:p.Gln1412=
NM_000492.3:c.4234C= , LRG_663t1:c.4234C=	NP_000483.3:p.Gln1412=
ENST00000003084.10:c.4234C=	ENSP00000003084.6:p.Gln1412=
ENST00000426809.5:c.4144C=	ENSP00000389119.1:p.Gln1382=
ENST00000600166.1:c.360C=
ENST00000647720.1:c.1684C=
ENST00000647720.2:c.*443C=	ENSP00000497673.2:n.*443C=
ENST00000647978.2:c.*3948C=	ENSP00000497658.1:n.*3948C=
ENST00000649781.1:c.4051C=	ENSP00000497203.1:p.Gln1351=
ENST00000649781.2:c.4051C=	ENSP00000497203.1:p.Gln1351=
ENST00000685018.1:c.1098C=	ENSP00000510194.1:n.1098C=
ENST00000685018.2:c.*447C=	ENSP00000510194.2:n.*447C=
ENST00000687278.1:c.2021C=	ENSP00000509593.1:n.2021C=
ENST00000687278.2:c.*887C=	ENSP00000509593.2:n.*887C=
ENST00000689011.1:c.816C=
ENST00000699585.1:c.*443C=	ENSP00000514456.1:n.*443C=
ENST00000699598.1:c.4234C=	ENSP00000514467.1:p.Gln1412=
ENST00000699599.1:c.*447C=	ENSP00000514468.1:n.*447C=
ENST00000699600.1:c.*895C=	ENSP00000514469.1:n.*895C=
ENST00000699601.1:c.*2609C=	ENSP00000514470.1:n.*2609C=
ENST00000699602.1:c.4228C=	ENSP00000514471.1:p.Gln1410=
ENST00000699604.1:c.*4058C=	ENSP00000514472.1:n.*4058C=
ENST00000699605.1:c.3808C=	ENSP00000514473.1:p.Gln1270=
ENST00000699606.1:n.2402C=
XM_011515751.1:c.4324C=	XP_011514053.1:p.Gln1442=
XM_011515752.1:c.4324C=	XP_011514054.1:p.Gln1442=
XM_011515753.1:c.3991C=	XP_011514055.1:p.Gln1331=
XM_011515754.1:c.3991C=	XP_011514056.1:p.Gln1331=