Canonical Allele Identifier: CA368983539

Gene: CFTR

Linked Data

• dbSNP Id: rs1328328881
• gnomAD v2: 7-117305557-A-G
• gnomAD v3: 7-117665503-A-G
• gnomAD v4: 7-117665503-A-G
• MyVariant Identifiers: chr7:g.117305557A>G (hg19) ; chr7:g.117665503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665503A>G , CM000669.2:g.117665503A>G	GRCh38
NC_000007.13:g.117305557A>G , CM000669.1:g.117305557A>G	GRCh37
NC_000007.12:g.117092793A>G	NCBI36
NG_016465.4:g.204720A>G , LRG_663:g.204720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*390A>G	ENSP00000497673.2:n.*390A>G
ENST00000647978.2:c.*3895A>G	ENSP00000497658.1:n.*3895A>G
ENST00000649781.2:c.3998A>G	ENSP00000497203.1:p.Asp1333Gly
ENST00000685018.2:c.*394A>G	ENSP00000510194.2:n.*394A>G
ENST00000687278.2:c.*834A>G	ENSP00000509593.2:n.*834A>G
ENST00000699585.1:c.*390A>G	ENSP00000514456.1:n.*390A>G
ENST00000699598.1:c.4181A>G	ENSP00000514467.1:p.Asp1394Gly
ENST00000699599.1:c.*394A>G	ENSP00000514468.1:n.*394A>G
ENST00000699600.1:c.*842A>G	ENSP00000514469.1:n.*842A>G
ENST00000699601.1:c.*2556A>G	ENSP00000514470.1:n.*2556A>G
ENST00000699602.1:c.4175A>G	ENSP00000514471.1:p.Asp1392Gly
ENST00000699604.1:c.*4005A>G	ENSP00000514472.1:n.*4005A>G
ENST00000699605.1:c.3755A>G	ENSP00000514473.1:p.Asp1252Gly
ENST00000699606.1:n.2349A>G
ENST00000685018.1:c.1045A>G	ENSP00000510194.1:n.1045A>G
ENST00000687278.1:c.1968A>G	ENSP00000509593.1:n.1968A>G
ENST00000689011.1:c.763A>G
ENST00000003084.11:c.4181A>G MANE Select	ENSP00000003084.6:p.Asp1394Gly
ENST00000647720.1:c.1631A>G
ENST00000649781.1:c.3998A>G	ENSP00000497203.1:p.Asp1333Gly
ENST00000003084.10:c.4181A>G	ENSP00000003084.6:p.Asp1394Gly
ENST00000426809.5:c.4091A>G	ENSP00000389119.1:p.Asp1364Gly
ENST00000600166.1:c.307A>G
NM_000492.3:c.4181A>G , LRG_663t1:c.4181A>G	NP_000483.3:p.Asp1394Gly
XM_011515751.1:c.4271A>G	XP_011514053.1:p.Asp1424Gly
XM_011515752.1:c.4271A>G	XP_011514054.1:p.Asp1424Gly
XM_011515753.1:c.3938A>G	XP_011514055.1:p.Asp1313Gly
XM_011515754.1:c.3938A>G	XP_011514056.1:p.Asp1313Gly
NM_000492.4:c.4181A>G MANE Select	NP_000483.3:p.Asp1394Gly