Canonical Allele Identifier: CA1737390568

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587815C= , CM000669.2:g.117587815C=	GRCh38
NC_000007.13:g.117227869C= , CM000669.1:g.117227869C=	GRCh37
NC_000007.12:g.117015105C=	NCBI36
NG_016465.4:g.127032C= , LRG_663:g.127032C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1661C=	ENSP00000497673.2:p.Ala554=
ENST00000647978.2:c.*1375C=	ENSP00000497658.1:n.*1375C=
ENST00000649781.2:c.1478C=	ENSP00000497203.1:p.Ala493=
ENST00000685018.2:c.1661C=	ENSP00000510194.2:p.Ala554=
ENST00000687278.2:c.1661C=	ENSP00000509593.2:p.Ala554=
ENST00000699585.1:c.1661C=	ENSP00000514456.1:p.Ala554=
ENST00000699598.1:c.1661C=	ENSP00000514467.1:p.Ala554=
ENST00000699599.1:c.1661C=	ENSP00000514468.1:p.Ala554=
ENST00000699600.1:c.1661C=	ENSP00000514469.1:p.Ala554=
ENST00000699601.1:c.1661C=	ENSP00000514470.1:p.Ala554=
ENST00000699602.1:c.1661C=	ENSP00000514471.1:p.Ala554=
ENST00000699604.1:c.*1485C=	ENSP00000514472.1:n.*1485C=
ENST00000699605.1:c.1235C=	ENSP00000514473.1:p.Ala412=
ENST00000003084.11:c.1661C= MANE Select	ENSP00000003084.6:p.Ala554=
ENST00000647978.1:c.*1375C=	ENSP00000497658.1:n.*1375C=
ENST00000648260.1:c.1402-15011C=	ENSP00000497957.1:n.1402-15011C=
ENST00000649406.1:c.1478C=	ENSP00000497965.1:p.Ala493=
ENST00000649781.1:c.1478C=	ENSP00000497203.1:p.Ala493=
ENST00000003084.10:c.1661C=	ENSP00000003084.6:p.Ala554=
ENST00000426809.5:c.1571C=	ENSP00000389119.1:p.Ala524=
NM_000492.3:c.1661C= , LRG_663t1:c.1661C=	NP_000483.3:p.Ala554=
XM_011515751.1:c.1751C=	XP_011514053.1:p.Ala584=
XM_011515752.1:c.1751C=	XP_011514054.1:p.Ala584=
XM_011515753.1:c.1418C=	XP_011514055.1:p.Ala473=
XM_011515754.1:c.1418C=	XP_011514056.1:p.Ala473=
NM_000492.4:c.1661C= MANE Select	NP_000483.3:p.Ala554=