Canonical Allele Identifier: CA164947374

Gene: CFTR

Linked Data

• dbSNP Id: rs139027193
• gnomAD v4: 7-117591954-C-A
• COSMIC: COSM6406659
• MyVariant Identifiers: chr7:g.117232008C>A (hg19) ; chr7:g.117591954C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591954C>A , CM000669.2:g.117591954C>A	GRCh38
NC_000007.13:g.117232008C>A , CM000669.1:g.117232008C>A	GRCh37
NC_000007.12:g.117019244C>A	NCBI36
NG_016465.4:g.131171C>A , LRG_663:g.131171C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1787C>A	ENSP00000497673.2:p.Ala596Asp
ENST00000647978.2:c.*1501C>A	ENSP00000497658.1:n.*1501C>A
ENST00000649781.2:c.1604C>A	ENSP00000497203.1:p.Ala535Asp
ENST00000685018.2:c.1787C>A	ENSP00000510194.2:p.Ala596Asp
ENST00000687278.2:c.1787C>A	ENSP00000509593.2:p.Ala596Asp
ENST00000699585.1:c.1787C>A	ENSP00000514456.1:p.Ala596Asp
ENST00000699598.1:c.1787C>A	ENSP00000514467.1:p.Ala596Asp
ENST00000699599.1:c.1787C>A	ENSP00000514468.1:p.Ala596Asp
ENST00000699600.1:c.1787C>A	ENSP00000514469.1:p.Ala596Asp
ENST00000699601.1:c.*87C>A	ENSP00000514470.1:n.*87C>A
ENST00000699602.1:c.1787C>A	ENSP00000514471.1:p.Ala596Asp
ENST00000699604.1:c.*1611C>A	ENSP00000514472.1:n.*1611C>A
ENST00000699605.1:c.1361C>A	ENSP00000514473.1:p.Ala454Asp
ENST00000003084.11:c.1787C>A MANE Select	ENSP00000003084.6:p.Ala596Asp
ENST00000647978.1:c.*1501C>A	ENSP00000497658.1:n.*1501C>A
ENST00000648260.1:c.1402-10872C>A	ENSP00000497957.1:n.1402-10872C>A
ENST00000649406.1:c.1604C>A	ENSP00000497965.1:p.Ala535Asp
ENST00000649781.1:c.1604C>A	ENSP00000497203.1:p.Ala535Asp
ENST00000003084.10:c.1787C>A	ENSP00000003084.6:p.Ala596Asp
ENST00000426809.5:c.1697C>A	ENSP00000389119.1:p.Ala566Asp
NM_000492.3:c.1787C>A , LRG_663t1:c.1787C>A	NP_000483.3:p.Ala596Asp
XM_011515751.1:c.1877C>A	XP_011514053.1:p.Ala626Asp
XM_011515752.1:c.1877C>A	XP_011514054.1:p.Ala626Asp
XM_011515753.1:c.1544C>A	XP_011514055.1:p.Ala515Asp
XM_011515754.1:c.1544C>A	XP_011514056.1:p.Ala515Asp
NM_000492.4:c.1787C>A MANE Select	NP_000483.3:p.Ala596Asp