Canonical Allele Identifier: CA4451554

Gene: CFTR

Linked Data

• dbSNP Id: rs397508615
• ExAC: 7:117282615 C / G
• gnomAD v2: 7-117282615-C-G
• gnomAD v3: 7-117642561-C-G
• gnomAD v4: 7-117642561-C-G
• MyVariant Identifiers: chr7:g.117282615C>G (hg19) ; chr7:g.117642561C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642561C>G , CM000669.2:g.117642561C>G	GRCh38
NC_000007.13:g.117282615C>G , CM000669.1:g.117282615C>G	GRCh37
NC_000007.12:g.117069851C>G	NCBI36
NG_016465.4:g.181778C>G , LRG_663:g.181778C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*50C>G	ENSP00000497673.2:n.*50C>G
ENST00000647978.2:c.*3555C>G	ENSP00000497658.1:n.*3555C>G
ENST00000649781.2:c.3658C>G	ENSP00000497203.1:p.Gln1220Glu
ENST00000685018.2:c.3841C>G	ENSP00000510194.2:p.Gln1281Glu
ENST00000687278.2:c.*494C>G	ENSP00000509593.2:n.*494C>G
ENST00000699585.1:c.*50C>G	ENSP00000514456.1:n.*50C>G
ENST00000699598.1:c.3841C>G	ENSP00000514467.1:p.Gln1281Glu
ENST00000699599.1:c.3841C>G	ENSP00000514468.1:p.Gln1281Glu
ENST00000699600.1:c.*502C>G	ENSP00000514469.1:n.*502C>G
ENST00000699601.1:c.*2216C>G	ENSP00000514470.1:n.*2216C>G
ENST00000699602.1:c.3835C>G	ENSP00000514471.1:p.Gln1279Glu
ENST00000699604.1:c.*3665C>G	ENSP00000514472.1:n.*3665C>G
ENST00000699605.1:c.3415C>G	ENSP00000514473.1:p.Gln1139Glu
ENST00000685018.1:c.589C>G	ENSP00000510194.1:p.Gln197Glu
ENST00000687278.1:c.1628C>G	ENSP00000509593.1:n.1628C>G
ENST00000689011.1:c.423C>G
ENST00000003084.11:c.3841C>G MANE Select	ENSP00000003084.6:p.Gln1281Glu
ENST00000647720.1:c.1291C>G
ENST00000649781.1:c.3658C>G	ENSP00000497203.1:p.Gln1220Glu
ENST00000003084.10:c.3841C>G	ENSP00000003084.6:p.Gln1281Glu
ENST00000426809.5:c.3751C>G	ENSP00000389119.1:p.Gln1251Glu
NM_000492.3:c.3841C>G , LRG_663t1:c.3841C>G	NP_000483.3:p.Gln1281Glu
XM_011515751.1:c.3931C>G	XP_011514053.1:p.Gln1311Glu
XM_011515752.1:c.3931C>G	XP_011514054.1:p.Gln1311Glu
XM_011515753.1:c.3598C>G	XP_011514055.1:p.Gln1200Glu
XM_011515754.1:c.3598C>G	XP_011514056.1:p.Gln1200Glu
NM_000492.4:c.3841C>G MANE Select	NP_000483.3:p.Gln1281Glu