Canonical Allele Identifier: CA368974771

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282550G>T (hg19) ; chr7:g.117642496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642496G>T , CM000669.2:g.117642496G>T	GRCh38
NC_000007.13:g.117282550G>T , CM000669.1:g.117282550G>T	GRCh37
NC_000007.12:g.117069786G>T	NCBI36
NG_016465.4:g.181713G>T , LRG_663:g.181713G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3576G>T	ENSP00000497673.2:p.Glu1192Asp
ENST00000647978.2:c.*3490G>T	ENSP00000497658.1:n.*3490G>T
ENST00000649781.2:c.3593G>T	ENSP00000497203.1:p.Arg1198Ile
ENST00000685018.2:c.3776G>T	ENSP00000510194.2:p.Arg1259Ile
ENST00000687278.2:c.*429G>T	ENSP00000509593.2:n.*429G>T
ENST00000699585.1:c.3576G>T	ENSP00000514456.1:p.Glu1192Asp
ENST00000699598.1:c.3776G>T	ENSP00000514467.1:p.Arg1259Ile
ENST00000699599.1:c.3776G>T	ENSP00000514468.1:p.Arg1259Ile
ENST00000699600.1:c.*437G>T	ENSP00000514469.1:n.*437G>T
ENST00000699601.1:c.*2151G>T	ENSP00000514470.1:n.*2151G>T
ENST00000699602.1:c.3770G>T	ENSP00000514471.1:p.Arg1257Ile
ENST00000699604.1:c.*3600G>T	ENSP00000514472.1:n.*3600G>T
ENST00000699605.1:c.3350G>T	ENSP00000514473.1:p.Arg1117Ile
ENST00000685018.1:c.524G>T	ENSP00000510194.1:p.Arg175Ile
ENST00000687278.1:c.1563G>T	ENSP00000509593.1:n.1563G>T
ENST00000689011.1:c.358G>T
ENST00000003084.11:c.3776G>T MANE Select	ENSP00000003084.6:p.Arg1259Ile
ENST00000647720.1:c.1226G>T
ENST00000649781.1:c.3593G>T	ENSP00000497203.1:p.Arg1198Ile
ENST00000003084.10:c.3776G>T	ENSP00000003084.6:p.Arg1259Ile
ENST00000426809.5:c.3686G>T	ENSP00000389119.1:p.Arg1229Ile
NM_000492.3:c.3776G>T , LRG_663t1:c.3776G>T	NP_000483.3:p.Arg1259Ile
XM_011515751.1:c.3866G>T	XP_011514053.1:p.Arg1289Ile
XM_011515752.1:c.3866G>T	XP_011514054.1:p.Arg1289Ile
XM_011515753.1:c.3533G>T	XP_011514055.1:p.Arg1178Ile
XM_011515754.1:c.3533G>T	XP_011514056.1:p.Arg1178Ile
NM_000492.4:c.3776G>T MANE Select	NP_000483.3:p.Arg1259Ile