Canonical Allele Identifier: CA1737394766

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592277C= , CM000669.2:g.117592277C=	GRCh38
NC_000007.13:g.117232331C= , CM000669.1:g.117232331C=	GRCh37
NC_000007.12:g.117019567C=	NCBI36
NG_016465.4:g.131494C= , LRG_663:g.131494C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2110C=	ENSP00000497673.2:p.Pro704=
ENST00000647978.2:c.*1824C=	ENSP00000497658.1:n.*1824C=
ENST00000649781.2:c.1927C=	ENSP00000497203.1:p.Pro643=
ENST00000685018.2:c.2110C=	ENSP00000510194.2:p.Pro704=
ENST00000687278.2:c.2110C=	ENSP00000509593.2:p.Pro704=
ENST00000699585.1:c.2110C=	ENSP00000514456.1:p.Pro704=
ENST00000699598.1:c.2110C=	ENSP00000514467.1:p.Pro704=
ENST00000699599.1:c.2110C=	ENSP00000514468.1:p.Pro704=
ENST00000699600.1:c.2110C=	ENSP00000514469.1:p.Pro704=
ENST00000699601.1:c.*410C=	ENSP00000514470.1:n.*410C=
ENST00000699602.1:c.2110C=	ENSP00000514471.1:p.Pro704=
ENST00000699604.1:c.*1934C=	ENSP00000514472.1:n.*1934C=
ENST00000699605.1:c.1684C=	ENSP00000514473.1:p.Pro562=
ENST00000003084.11:c.2110C= MANE Select	ENSP00000003084.6:p.Pro704=
ENST00000647978.1:c.*1824C=	ENSP00000497658.1:n.*1824C=
ENST00000648260.1:c.1402-10549C=	ENSP00000497957.1:n.1402-10549C=
ENST00000649406.1:c.1927C=	ENSP00000497965.1:p.Pro643=
ENST00000649781.1:c.1927C=	ENSP00000497203.1:p.Pro643=
ENST00000003084.10:c.2110C=	ENSP00000003084.6:p.Pro704=
ENST00000426809.5:c.2020C=	ENSP00000389119.1:p.Pro674=
NM_000492.3:c.2110C= , LRG_663t1:c.2110C=	NP_000483.3:p.Pro704=
XM_011515751.1:c.2200C=	XP_011514053.1:p.Pro734=
XM_011515752.1:c.2200C=	XP_011514054.1:p.Pro734=
XM_011515753.1:c.1867C=	XP_011514055.1:p.Pro623=
XM_011515754.1:c.1867C=	XP_011514056.1:p.Pro623=
NM_000492.4:c.2110C= MANE Select	NP_000483.3:p.Pro704=