Canonical Allele Identifier: CA326810

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53485
• ClinVar RCV Id: RCV000577537
• dbSNP Id: rs397508373
• MyVariant Identifiers: chr7:g.117232620C>G (hg19) ; chr7:g.117592566C>G (hg38)
• PubMed: PMID:7529962 ; PMID:9736778 ; PMID:20059485

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592566C>G , CM000669.2:g.117592566C>G	GRCh38
NC_000007.13:g.117232620C>G , CM000669.1:g.117232620C>G	GRCh37
NC_000007.12:g.117019856C>G	NCBI36
NG_016465.4:g.131783C>G , LRG_663:g.131783C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2399C>G	ENSP00000497673.2:p.Ala800Gly
ENST00000647978.2:c.*2113C>G	ENSP00000497658.1:n.*2113C>G
ENST00000649781.2:c.2216C>G	ENSP00000497203.1:p.Ala739Gly
ENST00000685018.2:c.2399C>G	ENSP00000510194.2:p.Ala800Gly
ENST00000687278.2:c.2399C>G	ENSP00000509593.2:p.Ala800Gly
ENST00000699585.1:c.2399C>G	ENSP00000514456.1:p.Ala800Gly
ENST00000699598.1:c.2399C>G	ENSP00000514467.1:p.Ala800Gly
ENST00000699599.1:c.2399C>G	ENSP00000514468.1:p.Ala800Gly
ENST00000699600.1:c.2399C>G	ENSP00000514469.1:p.Ala800Gly
ENST00000699601.1:c.*699C>G	ENSP00000514470.1:n.*699C>G
ENST00000699602.1:c.2399C>G	ENSP00000514471.1:p.Ala800Gly
ENST00000699604.1:c.*2223C>G	ENSP00000514472.1:n.*2223C>G
ENST00000699605.1:c.1973C>G	ENSP00000514473.1:p.Ala658Gly
ENST00000003084.11:c.2399C>G MANE Select	ENSP00000003084.6:p.Ala800Gly
ENST00000647720.1:c.49C>G
ENST00000647978.1:c.*2113C>G	ENSP00000497658.1:n.*2113C>G
ENST00000648260.1:c.1402-10260C>G	ENSP00000497957.1:n.1402-10260C>G
ENST00000649406.1:c.2216C>G	ENSP00000497965.1:p.Ala739Gly
ENST00000649781.1:c.2216C>G	ENSP00000497203.1:p.Ala739Gly
ENST00000003084.10:c.2399C>G	ENSP00000003084.6:p.Ala800Gly
ENST00000426809.5:c.2309C>G	ENSP00000389119.1:p.Ala770Gly
NM_000492.3:c.2399C>G , LRG_663t1:c.2399C>G	NP_000483.3:p.Ala800Gly
XM_011515751.1:c.2489C>G	XP_011514053.1:p.Ala830Gly
XM_011515752.1:c.2489C>G	XP_011514054.1:p.Ala830Gly
XM_011515753.1:c.2156C>G	XP_011514055.1:p.Ala719Gly
XM_011515754.1:c.2156C>G	XP_011514056.1:p.Ala719Gly
NM_000492.4:c.2399C>G MANE Select	NP_000483.3:p.Ala800Gly