Canonical Allele Identifier: CA368974405

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282493T>C (hg19) ; chr7:g.117642439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642439T>C , CM000669.2:g.117642439T>C	GRCh38
NC_000007.13:g.117282493T>C , CM000669.1:g.117282493T>C	GRCh37
NC_000007.12:g.117069729T>C	NCBI36
NG_016465.4:g.181656T>C , LRG_663:g.181656T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3519T>C	ENSP00000497673.2:p.Gly1173=
ENST00000647978.2:c.*3433T>C	ENSP00000497658.1:n.*3433T>C
ENST00000649781.2:c.3536T>C	ENSP00000497203.1:p.Val1179Ala
ENST00000685018.2:c.3719T>C	ENSP00000510194.2:p.Val1240Ala
ENST00000687278.2:c.*372T>C	ENSP00000509593.2:n.*372T>C
ENST00000699585.1:c.3519T>C	ENSP00000514456.1:p.Gly1173=
ENST00000699598.1:c.3719T>C	ENSP00000514467.1:p.Val1240Ala
ENST00000699599.1:c.3719T>C	ENSP00000514468.1:p.Val1240Ala
ENST00000699600.1:c.*380T>C	ENSP00000514469.1:n.*380T>C
ENST00000699601.1:c.*2094T>C	ENSP00000514470.1:n.*2094T>C
ENST00000699602.1:c.3713T>C	ENSP00000514471.1:p.Val1238Ala
ENST00000699604.1:c.*3543T>C	ENSP00000514472.1:n.*3543T>C
ENST00000699605.1:c.3293T>C	ENSP00000514473.1:p.Val1098Ala
ENST00000685018.1:c.467T>C	ENSP00000510194.1:p.Val156Ala
ENST00000687278.1:c.1506T>C	ENSP00000509593.1:n.1506T>C
ENST00000689011.1:c.301T>C
ENST00000003084.11:c.3719T>C MANE Select	ENSP00000003084.6:p.Val1240Ala
ENST00000647720.1:c.1169T>C
ENST00000649781.1:c.3536T>C	ENSP00000497203.1:p.Val1179Ala
ENST00000003084.10:c.3719T>C	ENSP00000003084.6:p.Val1240Ala
ENST00000426809.5:c.3629T>C	ENSP00000389119.1:p.Val1210Ala
NM_000492.3:c.3719T>C , LRG_663t1:c.3719T>C	NP_000483.3:p.Val1240Ala
XM_011515751.1:c.3809T>C	XP_011514053.1:p.Val1270Ala
XM_011515752.1:c.3809T>C	XP_011514054.1:p.Val1270Ala
XM_011515753.1:c.3476T>C	XP_011514055.1:p.Val1159Ala
XM_011515754.1:c.3476T>C	XP_011514056.1:p.Val1159Ala
NM_000492.4:c.3719T>C MANE Select	NP_000483.3:p.Val1240Ala