Canonical Allele Identifier: CA1737398696

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627690A= , CM000669.2:g.117627690A=	GRCh38
NC_000007.13:g.117267744A= , CM000669.1:g.117267744A=	GRCh37
NC_000007.12:g.117054980A=	NCBI36
NG_016465.4:g.166907A= , LRG_663:g.166907A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+120A=	ENSP00000497673.2:n.3517+120A=
ENST00000647978.2:c.*3351A=	ENSP00000497658.1:n.*3351A=
ENST00000649781.2:c.3454A=	ENSP00000497203.1:p.Lys1152=
ENST00000685018.2:c.3637A=	ENSP00000510194.2:p.Lys1213=
ENST00000687278.2:c.*290A=	ENSP00000509593.2:n.*290A=
ENST00000699585.1:c.3517+120A=	ENSP00000514456.1:n.3517+120A=
ENST00000699598.1:c.3637A=	ENSP00000514467.1:p.Lys1213=
ENST00000699599.1:c.3637A=	ENSP00000514468.1:p.Lys1213=
ENST00000699600.1:c.*298A=	ENSP00000514469.1:n.*298A=
ENST00000699601.1:c.*2012A=	ENSP00000514470.1:n.*2012A=
ENST00000699602.1:c.3631A=	ENSP00000514471.1:p.Lys1211=
ENST00000699604.1:c.*3461A=	ENSP00000514472.1:n.*3461A=
ENST00000699605.1:c.3211A=	ENSP00000514473.1:p.Lys1071=
ENST00000685018.1:c.385A=	ENSP00000510194.1:p.Lys129=
ENST00000687278.1:c.1424A=	ENSP00000509593.1:n.1424A=
ENST00000689011.1:c.219A=
ENST00000003084.11:c.3637A= MANE Select	ENSP00000003084.6:p.Lys1213=
ENST00000647720.1:c.1167+120A=
ENST00000648260.1:c.2419A=	ENSP00000497957.1:p.Lys807=
ENST00000649406.1:c.3454A=	ENSP00000497965.1:p.Lys1152=
ENST00000649781.1:c.3454A=	ENSP00000497203.1:p.Lys1152=
ENST00000003084.10:c.3637A=	ENSP00000003084.6:p.Lys1213=
ENST00000426809.5:c.3547A=	ENSP00000389119.1:p.Lys1183=
ENST00000468795.1:c.462A=
NM_000492.3:c.3637A= , LRG_663t1:c.3637A=	NP_000483.3:p.Lys1213=
XM_011515751.1:c.3727A=	XP_011514053.1:p.Lys1243=
XM_011515752.1:c.3727A=	XP_011514054.1:p.Lys1243=
XM_011515753.1:c.3394A=	XP_011514055.1:p.Lys1132=
XM_011515754.1:c.3394A=	XP_011514056.1:p.Lys1132=
NM_000492.4:c.3637A= MANE Select	NP_000483.3:p.Lys1213=