Canonical Allele Identifier: CA1737335113

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117542088G= , CM000669.2:g.117542088G=	GRCh38
NC_000007.13:g.117182142G= , CM000669.1:g.117182142G=	GRCh37
NC_000007.12:g.116969378G=	NCBI36
NG_016465.4:g.81305G= , LRG_663:g.81305G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1189G=	ENSP00000497673.2:p.Val397=
ENST00000647978.2:c.*1086G=	ENSP00000497658.1:n.*1086G=
ENST00000649781.2:c.1189G=	ENSP00000497203.1:p.Val397=
ENST00000685018.2:c.1189G=	ENSP00000510194.2:p.Val397=
ENST00000687278.2:c.1189G=	ENSP00000509593.2:p.Val397=
ENST00000699585.1:c.1189G=	ENSP00000514456.1:p.Val397=
ENST00000699596.1:c.1189G=	ENSP00000514465.1:p.Val397=
ENST00000699597.1:c.1189G=	ENSP00000514466.1:p.Val397=
ENST00000699598.1:c.1189G=	ENSP00000514467.1:p.Val397=
ENST00000699599.1:c.1189G=	ENSP00000514468.1:p.Val397=
ENST00000699600.1:c.1189G=	ENSP00000514469.1:p.Val397=
ENST00000699601.1:c.1189G=	ENSP00000514470.1:p.Val397=
ENST00000699602.1:c.1189G=	ENSP00000514471.1:p.Val397=
ENST00000699604.1:c.*1013G=	ENSP00000514472.1:n.*1013G=
ENST00000699605.1:c.946G=	ENSP00000514473.1:p.Val316=
ENST00000003084.11:c.1189G= MANE Select	ENSP00000003084.6:p.Val397=
ENST00000647978.1:c.*1086G=	ENSP00000497658.1:n.*1086G=
ENST00000648260.1:c.1189G=	ENSP00000497957.1:p.Val397=
ENST00000649406.1:c.1189G=	ENSP00000497965.1:p.Val397=
ENST00000649781.1:c.1189G=	ENSP00000497203.1:p.Val397=
ENST00000673785.1:c.946G=	ENSP00000501235.1:p.Val316=
ENST00000003084.10:c.1189G=	ENSP00000003084.6:p.Val397=
ENST00000426809.5:c.1099G=	ENSP00000389119.1:p.Val367=
NM_000492.3:c.1189G= , LRG_663t1:c.1189G=	NP_000483.3:p.Val397=
XM_011515751.1:c.1279G=	XP_011514053.1:p.Val427=
XM_011515752.1:c.1279G=	XP_011514054.1:p.Val427=
XM_011515753.1:c.946G=	XP_011514055.1:p.Val316=
XM_011515754.1:c.946G=	XP_011514056.1:p.Val316=
NM_000492.4:c.1189G= MANE Select	NP_000483.3:p.Val397=