Canonical Allele Identifier: CA4451042

Gene: CFTR

Linked Data

• dbSNP Id: rs397508237
• ExAC: 7:117227796 A / G
• gnomAD v2: 7-117227796-A-G
• MyVariant Identifiers: chr7:g.117227796A>G (hg19) ; chr7:g.117587742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587742A>G , CM000669.2:g.117587742A>G	GRCh38
NC_000007.13:g.117227796A>G , CM000669.1:g.117227796A>G	GRCh37
NC_000007.12:g.117015032A>G	NCBI36
NG_016465.4:g.126959A>G , LRG_663:g.126959A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1588A>G	ENSP00000497673.2:p.Ile530Val
ENST00000647978.2:c.*1302A>G	ENSP00000497658.1:n.*1302A>G
ENST00000649781.2:c.1405A>G	ENSP00000497203.1:p.Ile469Val
ENST00000685018.2:c.1588A>G	ENSP00000510194.2:p.Ile530Val
ENST00000687278.2:c.1588A>G	ENSP00000509593.2:p.Ile530Val
ENST00000699585.1:c.1588A>G	ENSP00000514456.1:p.Ile530Val
ENST00000699598.1:c.1588A>G	ENSP00000514467.1:p.Ile530Val
ENST00000699599.1:c.1588A>G	ENSP00000514468.1:p.Ile530Val
ENST00000699600.1:c.1588A>G	ENSP00000514469.1:p.Ile530Val
ENST00000699601.1:c.1588A>G	ENSP00000514470.1:p.Ile530Val
ENST00000699602.1:c.1588A>G	ENSP00000514471.1:p.Ile530Val
ENST00000699604.1:c.*1412A>G	ENSP00000514472.1:n.*1412A>G
ENST00000699605.1:c.1162A>G	ENSP00000514473.1:p.Ile388Val
ENST00000003084.11:c.1588A>G MANE Select	ENSP00000003084.6:p.Ile530Val
ENST00000647978.1:c.*1302A>G	ENSP00000497658.1:n.*1302A>G
ENST00000648260.1:c.1402-15084A>G	ENSP00000497957.1:n.1402-15084A>G
ENST00000649406.1:c.1405A>G	ENSP00000497965.1:p.Ile469Val
ENST00000649781.1:c.1405A>G	ENSP00000497203.1:p.Ile469Val
ENST00000003084.10:c.1588A>G	ENSP00000003084.6:p.Ile530Val
ENST00000426809.5:c.1498A>G	ENSP00000389119.1:p.Ile500Val
ENST00000472848.1:n.141A>G
NM_000492.3:c.1588A>G , LRG_663t1:c.1588A>G	NP_000483.3:p.Ile530Val
XM_011515751.1:c.1678A>G	XP_011514053.1:p.Ile560Val
XM_011515752.1:c.1678A>G	XP_011514054.1:p.Ile560Val
XM_011515753.1:c.1345A>G	XP_011514055.1:p.Ile449Val
XM_011515754.1:c.1345A>G	XP_011514056.1:p.Ile449Val
NM_000492.4:c.1588A>G MANE Select	NP_000483.3:p.Ile530Val