Canonical Allele Identifier: CA368974921

Gene: CFTR

Linked Data

• dbSNP Id: rs1472139599
• gnomAD v2: 7-117282565-A-G
• gnomAD v4: 7-117642511-A-G
• MyVariant Identifiers: chr7:g.117282565A>G (hg19) ; chr7:g.117642511A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642511A>G , CM000669.2:g.117642511A>G	GRCh38
NC_000007.13:g.117282565A>G , CM000669.1:g.117282565A>G	GRCh37
NC_000007.12:g.117069801A>G	NCBI36
NG_016465.4:g.181728A>G , LRG_663:g.181728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3591A>G	ENSP00000497673.2:p.Ter1197Trp
ENST00000647978.2:c.*3505A>G	ENSP00000497658.1:n.*3505A>G
ENST00000649781.2:c.3608A>G	ENSP00000497203.1:p.Glu1203Gly
ENST00000685018.2:c.3791A>G	ENSP00000510194.2:p.Glu1264Gly
ENST00000687278.2:c.*444A>G	ENSP00000509593.2:n.*444A>G
ENST00000699585.1:c.3591A>G	ENSP00000514456.1:p.Ter1197Trp
ENST00000699598.1:c.3791A>G	ENSP00000514467.1:p.Glu1264Gly
ENST00000699599.1:c.3791A>G	ENSP00000514468.1:p.Glu1264Gly
ENST00000699600.1:c.*452A>G	ENSP00000514469.1:n.*452A>G
ENST00000699601.1:c.*2166A>G	ENSP00000514470.1:n.*2166A>G
ENST00000699602.1:c.3785A>G	ENSP00000514471.1:p.Glu1262Gly
ENST00000699604.1:c.*3615A>G	ENSP00000514472.1:n.*3615A>G
ENST00000699605.1:c.3365A>G	ENSP00000514473.1:p.Glu1122Gly
ENST00000685018.1:c.539A>G	ENSP00000510194.1:p.Glu180Gly
ENST00000687278.1:c.1578A>G	ENSP00000509593.1:n.1578A>G
ENST00000689011.1:c.373A>G
ENST00000003084.11:c.3791A>G MANE Select	ENSP00000003084.6:p.Glu1264Gly
ENST00000647720.1:c.1241A>G
ENST00000649781.1:c.3608A>G	ENSP00000497203.1:p.Glu1203Gly
ENST00000003084.10:c.3791A>G	ENSP00000003084.6:p.Glu1264Gly
ENST00000426809.5:c.3701A>G	ENSP00000389119.1:p.Glu1234Gly
NM_000492.3:c.3791A>G , LRG_663t1:c.3791A>G	NP_000483.3:p.Glu1264Gly
XM_011515751.1:c.3881A>G	XP_011514053.1:p.Glu1294Gly
XM_011515752.1:c.3881A>G	XP_011514054.1:p.Glu1294Gly
XM_011515753.1:c.3548A>G	XP_011514055.1:p.Glu1183Gly
XM_011515754.1:c.3548A>G	XP_011514056.1:p.Glu1183Gly
NM_000492.4:c.3791A>G MANE Select	NP_000483.3:p.Glu1264Gly