Canonical Allele Identifier: CA368983388

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305529A>T (hg19) ; chr7:g.117665475A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665475A>T , CM000669.2:g.117665475A>T	GRCh38
NC_000007.13:g.117305529A>T , CM000669.1:g.117305529A>T	GRCh37
NC_000007.12:g.117092765A>T	NCBI36
NG_016465.4:g.204692A>T , LRG_663:g.204692A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*362A>T	ENSP00000497673.2:n.*362A>T
ENST00000647978.2:c.*3867A>T	ENSP00000497658.1:n.*3867A>T
ENST00000649781.2:c.3970A>T	ENSP00000497203.1:p.Arg1324Ter
ENST00000685018.2:c.*366A>T	ENSP00000510194.2:n.*366A>T
ENST00000687278.2:c.*806A>T	ENSP00000509593.2:n.*806A>T
ENST00000699585.1:c.*362A>T	ENSP00000514456.1:n.*362A>T
ENST00000699598.1:c.4153A>T	ENSP00000514467.1:p.Arg1385Ter
ENST00000699599.1:c.*366A>T	ENSP00000514468.1:n.*366A>T
ENST00000699600.1:c.*814A>T	ENSP00000514469.1:n.*814A>T
ENST00000699601.1:c.*2528A>T	ENSP00000514470.1:n.*2528A>T
ENST00000699602.1:c.4147A>T	ENSP00000514471.1:p.Arg1383Ter
ENST00000699604.1:c.*3977A>T	ENSP00000514472.1:n.*3977A>T
ENST00000699605.1:c.3727A>T	ENSP00000514473.1:p.Arg1243Ter
ENST00000699606.1:n.2321A>T
ENST00000685018.1:c.1017A>T	ENSP00000510194.1:n.1017A>T
ENST00000687278.1:c.1940A>T	ENSP00000509593.1:n.1940A>T
ENST00000689011.1:c.735A>T
ENST00000003084.11:c.4153A>T MANE Select	ENSP00000003084.6:p.Arg1385Ter
ENST00000647720.1:c.1603A>T
ENST00000649781.1:c.3970A>T	ENSP00000497203.1:p.Arg1324Ter
ENST00000003084.10:c.4153A>T	ENSP00000003084.6:p.Arg1385Ter
ENST00000426809.5:c.4063A>T	ENSP00000389119.1:p.Arg1355Ter
ENST00000600166.1:c.279A>T
NM_000492.3:c.4153A>T , LRG_663t1:c.4153A>T	NP_000483.3:p.Arg1385Ter
XM_011515751.1:c.4243A>T	XP_011514053.1:p.Arg1415Ter
XM_011515752.1:c.4243A>T	XP_011514054.1:p.Arg1415Ter
XM_011515753.1:c.3910A>T	XP_011514055.1:p.Arg1304Ter
XM_011515754.1:c.3910A>T	XP_011514056.1:p.Arg1304Ter
NM_000492.4:c.4153A>T MANE Select	NP_000483.3:p.Arg1385Ter