Canonical Allele Identifier: CA1737392265

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590362C= , CM000669.2:g.117590362C=	GRCh38
NC_000007.13:g.117230416C= , CM000669.1:g.117230416C=	GRCh37
NC_000007.12:g.117017652C=	NCBI36
NG_016465.4:g.129579C= , LRG_663:g.129579C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1689C=	ENSP00000497673.2:p.Tyr563=
ENST00000647978.2:c.*1403C=	ENSP00000497658.1:n.*1403C=
ENST00000649781.2:c.1506C=	ENSP00000497203.1:p.Tyr502=
ENST00000685018.2:c.1689C=	ENSP00000510194.2:p.Tyr563=
ENST00000687278.2:c.1689C=	ENSP00000509593.2:p.Tyr563=
ENST00000699585.1:c.1689C=	ENSP00000514456.1:p.Tyr563=
ENST00000699598.1:c.1689C=	ENSP00000514467.1:p.Tyr563=
ENST00000699599.1:c.1689C=	ENSP00000514468.1:p.Tyr563=
ENST00000699600.1:c.1689C=	ENSP00000514469.1:p.Tyr563=
ENST00000699601.1:c.1684C=	ENSP00000514470.1:p.Gln562=
ENST00000699602.1:c.1689C=	ENSP00000514471.1:p.Tyr563=
ENST00000699604.1:c.*1513C=	ENSP00000514472.1:n.*1513C=
ENST00000699605.1:c.1263C=	ENSP00000514473.1:p.Tyr421=
ENST00000003084.11:c.1689C= MANE Select	ENSP00000003084.6:p.Tyr563=
ENST00000647978.1:c.*1403C=	ENSP00000497658.1:n.*1403C=
ENST00000648260.1:c.1402-12464C=	ENSP00000497957.1:n.1402-12464C=
ENST00000649406.1:c.1506C=	ENSP00000497965.1:p.Tyr502=
ENST00000649781.1:c.1506C=	ENSP00000497203.1:p.Tyr502=
ENST00000003084.10:c.1689C=	ENSP00000003084.6:p.Tyr563=
ENST00000426809.5:c.1599C=	ENSP00000389119.1:p.Tyr533=
NM_000492.3:c.1689C= , LRG_663t1:c.1689C=	NP_000483.3:p.Tyr563=
XM_011515751.1:c.1779C=	XP_011514053.1:p.Tyr593=
XM_011515752.1:c.1779C=	XP_011514054.1:p.Tyr593=
XM_011515753.1:c.1446C=	XP_011514055.1:p.Tyr482=
XM_011515754.1:c.1446C=	XP_011514056.1:p.Tyr482=
NM_000492.4:c.1689C= MANE Select	NP_000483.3:p.Tyr563=