Canonical Allele Identifier: CA368977184

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2064880
• ClinVar RCV Id: RCV002928921 ; RCV003317632
• dbSNP Id: rs772223589
• gnomAD v2: 7-117230445-C-G
• gnomAD v4: 7-117590391-C-G
• MyVariant Identifiers: chr7:g.117230445C>G (hg19) ; chr7:g.117590391C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590391C>G , CM000669.2:g.117590391C>G	GRCh38
NC_000007.13:g.117230445C>G , CM000669.1:g.117230445C>G	GRCh37
NC_000007.12:g.117017681C>G	NCBI36
NG_016465.4:g.129608C>G , LRG_663:g.129608C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1718C>G	ENSP00000497673.2:p.Ser573Cys
ENST00000647978.2:c.*1432C>G	ENSP00000497658.1:n.*1432C>G
ENST00000649781.2:c.1535C>G	ENSP00000497203.1:p.Ser512Cys
ENST00000685018.2:c.1718C>G	ENSP00000510194.2:p.Ser573Cys
ENST00000687278.2:c.1718C>G	ENSP00000509593.2:p.Ser573Cys
ENST00000699585.1:c.1718C>G	ENSP00000514456.1:p.Ser573Cys
ENST00000699598.1:c.1718C>G	ENSP00000514467.1:p.Ser573Cys
ENST00000699599.1:c.1718C>G	ENSP00000514468.1:p.Ser573Cys
ENST00000699600.1:c.1718C>G	ENSP00000514469.1:p.Ser573Cys
ENST00000699601.1:c.*18C>G	ENSP00000514470.1:n.*18C>G
ENST00000699602.1:c.1718C>G	ENSP00000514471.1:p.Ser573Cys
ENST00000699604.1:c.*1542C>G	ENSP00000514472.1:n.*1542C>G
ENST00000699605.1:c.1292C>G	ENSP00000514473.1:p.Ser431Cys
ENST00000003084.11:c.1718C>G MANE Select	ENSP00000003084.6:p.Ser573Cys
ENST00000647978.1:c.*1432C>G	ENSP00000497658.1:n.*1432C>G
ENST00000648260.1:c.1402-12435C>G	ENSP00000497957.1:n.1402-12435C>G
ENST00000649406.1:c.1535C>G	ENSP00000497965.1:p.Ser512Cys
ENST00000649781.1:c.1535C>G	ENSP00000497203.1:p.Ser512Cys
ENST00000003084.10:c.1718C>G	ENSP00000003084.6:p.Ser573Cys
ENST00000426809.5:c.1628C>G	ENSP00000389119.1:p.Ser543Cys
NM_000492.3:c.1718C>G , LRG_663t1:c.1718C>G	NP_000483.3:p.Ser573Cys
XM_011515751.1:c.1808C>G	XP_011514053.1:p.Ser603Cys
XM_011515752.1:c.1808C>G	XP_011514054.1:p.Ser603Cys
XM_011515753.1:c.1475C>G	XP_011514055.1:p.Ser492Cys
XM_011515754.1:c.1475C>G	XP_011514056.1:p.Ser492Cys
NM_000492.4:c.1718C>G MANE Select	NP_000483.3:p.Ser573Cys