Canonical Allele Identifier: CA368974525

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282520G>T (hg19) ; chr7:g.117642466G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642466G>T , CM000669.2:g.117642466G>T	GRCh38
NC_000007.13:g.117282520G>T , CM000669.1:g.117282520G>T	GRCh37
NC_000007.12:g.117069756G>T	NCBI36
NG_016465.4:g.181683G>T , LRG_663:g.181683G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3546G>T	ENSP00000497673.2:p.Arg1182Ser
ENST00000647978.2:c.*3460G>T	ENSP00000497658.1:n.*3460G>T
ENST00000649781.2:c.3563G>T	ENSP00000497203.1:p.Gly1188Val
ENST00000685018.2:c.3746G>T	ENSP00000510194.2:p.Gly1249Val
ENST00000687278.2:c.*399G>T	ENSP00000509593.2:n.*399G>T
ENST00000699585.1:c.3546G>T	ENSP00000514456.1:p.Arg1182Ser
ENST00000699598.1:c.3746G>T	ENSP00000514467.1:p.Gly1249Val
ENST00000699599.1:c.3746G>T	ENSP00000514468.1:p.Gly1249Val
ENST00000699600.1:c.*407G>T	ENSP00000514469.1:n.*407G>T
ENST00000699601.1:c.*2121G>T	ENSP00000514470.1:n.*2121G>T
ENST00000699602.1:c.3740G>T	ENSP00000514471.1:p.Gly1247Val
ENST00000699604.1:c.*3570G>T	ENSP00000514472.1:n.*3570G>T
ENST00000699605.1:c.3320G>T	ENSP00000514473.1:p.Gly1107Val
ENST00000685018.1:c.494G>T	ENSP00000510194.1:p.Gly165Val
ENST00000687278.1:c.1533G>T	ENSP00000509593.1:n.1533G>T
ENST00000689011.1:c.328G>T
ENST00000003084.11:c.3746G>T MANE Select	ENSP00000003084.6:p.Gly1249Val
ENST00000647720.1:c.1196G>T
ENST00000649781.1:c.3563G>T	ENSP00000497203.1:p.Gly1188Val
ENST00000003084.10:c.3746G>T	ENSP00000003084.6:p.Gly1249Val
ENST00000426809.5:c.3656G>T	ENSP00000389119.1:p.Gly1219Val
NM_000492.3:c.3746G>T , LRG_663t1:c.3746G>T	NP_000483.3:p.Gly1249Val
XM_011515751.1:c.3836G>T	XP_011514053.1:p.Gly1279Val
XM_011515752.1:c.3836G>T	XP_011514054.1:p.Gly1279Val
XM_011515753.1:c.3503G>T	XP_011514055.1:p.Gly1168Val
XM_011515754.1:c.3503G>T	XP_011514056.1:p.Gly1168Val
NM_000492.4:c.3746G>T MANE Select	NP_000483.3:p.Gly1249Val