Canonical Allele Identifier: CA368974787

Gene: CFTR

Linked Data

• dbSNP Id: rs1203054388
• MyVariant Identifiers: chr7:g.117282552C>G (hg19) ; chr7:g.117642498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642498C>G , CM000669.2:g.117642498C>G	GRCh38
NC_000007.13:g.117282552C>G , CM000669.1:g.117282552C>G	GRCh37
NC_000007.12:g.117069788C>G	NCBI36
NG_016465.4:g.181715C>G , LRG_663:g.181715C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3578C>G	ENSP00000497673.2:p.Thr1193Ser
ENST00000647978.2:c.*3492C>G	ENSP00000497658.1:n.*3492C>G
ENST00000649781.2:c.3595C>G	ENSP00000497203.1:p.Leu1199Val
ENST00000685018.2:c.3778C>G	ENSP00000510194.2:p.Leu1260Val
ENST00000687278.2:c.*431C>G	ENSP00000509593.2:n.*431C>G
ENST00000699585.1:c.3578C>G	ENSP00000514456.1:p.Thr1193Ser
ENST00000699598.1:c.3778C>G	ENSP00000514467.1:p.Leu1260Val
ENST00000699599.1:c.3778C>G	ENSP00000514468.1:p.Leu1260Val
ENST00000699600.1:c.*439C>G	ENSP00000514469.1:n.*439C>G
ENST00000699601.1:c.*2153C>G	ENSP00000514470.1:n.*2153C>G
ENST00000699602.1:c.3772C>G	ENSP00000514471.1:p.Leu1258Val
ENST00000699604.1:c.*3602C>G	ENSP00000514472.1:n.*3602C>G
ENST00000699605.1:c.3352C>G	ENSP00000514473.1:p.Leu1118Val
ENST00000685018.1:c.526C>G	ENSP00000510194.1:p.Leu176Val
ENST00000687278.1:c.1565C>G	ENSP00000509593.1:n.1565C>G
ENST00000689011.1:c.360C>G
ENST00000003084.11:c.3778C>G MANE Select	ENSP00000003084.6:p.Leu1260Val
ENST00000647720.1:c.1228C>G
ENST00000649781.1:c.3595C>G	ENSP00000497203.1:p.Leu1199Val
ENST00000003084.10:c.3778C>G	ENSP00000003084.6:p.Leu1260Val
ENST00000426809.5:c.3688C>G	ENSP00000389119.1:p.Leu1230Val
NM_000492.3:c.3778C>G , LRG_663t1:c.3778C>G	NP_000483.3:p.Leu1260Val
XM_011515751.1:c.3868C>G	XP_011514053.1:p.Leu1290Val
XM_011515752.1:c.3868C>G	XP_011514054.1:p.Leu1290Val
XM_011515753.1:c.3535C>G	XP_011514055.1:p.Leu1179Val
XM_011515754.1:c.3535C>G	XP_011514056.1:p.Leu1179Val
NM_000492.4:c.3778C>G MANE Select	NP_000483.3:p.Leu1260Val