Canonical Allele Identifier: CA457227372

Gene: CFTR

Linked Data

• gnomAD v4: 7-117590356-A-G
• MyVariant Identifiers: chr7:g.117230410A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590356A>G , CM000669.2:g.117590356A>G	GRCh38
NC_000007.13:g.117230410A>G , CM000669.1:g.117230410A>G	GRCh37
NC_000007.12:g.117017646A>G	NCBI36
NG_016465.4:g.129573A>G , LRG_663:g.129573A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1683A>G	ENSP00000497673.2:p.Ala561=
ENST00000647978.2:c.*1397A>G	ENSP00000497658.1:n.*1397A>G
ENST00000649781.2:c.1500A>G	ENSP00000497203.1:p.Ala500=
ENST00000685018.2:c.1683A>G	ENSP00000510194.2:p.Ala561=
ENST00000687278.2:c.1683A>G	ENSP00000509593.2:p.Ala561=
ENST00000699585.1:c.1683A>G	ENSP00000514456.1:p.Ala561=
ENST00000699598.1:c.1683A>G	ENSP00000514467.1:p.Ala561=
ENST00000699599.1:c.1683A>G	ENSP00000514468.1:p.Ala561=
ENST00000699600.1:c.1683A>G	ENSP00000514469.1:p.Ala561=
ENST00000699601.1:c.1680-2A>G	ENSP00000514470.1:n.1680-2A>G
ENST00000699602.1:c.1683A>G	ENSP00000514471.1:p.Ala561=
ENST00000699604.1:c.*1507A>G	ENSP00000514472.1:n.*1507A>G
ENST00000699605.1:c.1257A>G	ENSP00000514473.1:p.Ala419=
ENST00000003084.11:c.1683A>G MANE Select	ENSP00000003084.6:p.Ala561=
ENST00000647978.1:c.*1397A>G	ENSP00000497658.1:n.*1397A>G
ENST00000648260.1:c.1402-12470A>G	ENSP00000497957.1:n.1402-12470A>G
ENST00000649406.1:c.1500A>G	ENSP00000497965.1:p.Ala500=
ENST00000649781.1:c.1500A>G	ENSP00000497203.1:p.Ala500=
ENST00000003084.10:c.1683A>G	ENSP00000003084.6:p.Ala561=
ENST00000426809.5:c.1593A>G	ENSP00000389119.1:p.Ala531=
NM_000492.3:c.1683A>G , LRG_663t1:c.1683A>G	NP_000483.3:p.Ala561=
XM_011515751.1:c.1773A>G	XP_011514053.1:p.Ala591=
XM_011515752.1:c.1773A>G	XP_011514054.1:p.Ala591=
XM_011515753.1:c.1440A>G	XP_011514055.1:p.Ala480=
XM_011515754.1:c.1440A>G	XP_011514056.1:p.Ala480=
NM_000492.4:c.1683A>G MANE Select	NP_000483.3:p.Ala561=