Canonical Allele Identifier: CA164947848

Gene: CFTR

Linked Data

• ClinVar Variation Id: 495907
• ClinVar RCV Id: RCV000590243 ; RCV001437632 ; RCV001829621 ; RCV003915683
• dbSNP Id: rs926782023
• gnomAD v3: 7-117592279-A-G
• gnomAD v4: 7-117592279-A-G
• MyVariant Identifiers: chr7:g.117232333A>G (hg19) ; chr7:g.117592279A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592279A>G , CM000669.2:g.117592279A>G	GRCh38
NC_000007.13:g.117232333A>G , CM000669.1:g.117232333A>G	GRCh37
NC_000007.12:g.117019569A>G	NCBI36
NG_016465.4:g.131496A>G , LRG_663:g.131496A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2112A>G	ENSP00000497673.2:p.Pro704=
ENST00000647978.2:c.*1826A>G	ENSP00000497658.1:n.*1826A>G
ENST00000649781.2:c.1929A>G	ENSP00000497203.1:p.Pro643=
ENST00000685018.2:c.2112A>G	ENSP00000510194.2:p.Pro704=
ENST00000687278.2:c.2112A>G	ENSP00000509593.2:p.Pro704=
ENST00000699585.1:c.2112A>G	ENSP00000514456.1:p.Pro704=
ENST00000699598.1:c.2112A>G	ENSP00000514467.1:p.Pro704=
ENST00000699599.1:c.2112A>G	ENSP00000514468.1:p.Pro704=
ENST00000699600.1:c.2112A>G	ENSP00000514469.1:p.Pro704=
ENST00000699601.1:c.*412A>G	ENSP00000514470.1:n.*412A>G
ENST00000699602.1:c.2112A>G	ENSP00000514471.1:p.Pro704=
ENST00000699604.1:c.*1936A>G	ENSP00000514472.1:n.*1936A>G
ENST00000699605.1:c.1686A>G	ENSP00000514473.1:p.Pro562=
ENST00000003084.11:c.2112A>G MANE Select	ENSP00000003084.6:p.Pro704=
ENST00000647978.1:c.*1826A>G	ENSP00000497658.1:n.*1826A>G
ENST00000648260.1:c.1402-10547A>G	ENSP00000497957.1:n.1402-10547A>G
ENST00000649406.1:c.1929A>G	ENSP00000497965.1:p.Pro643=
ENST00000649781.1:c.1929A>G	ENSP00000497203.1:p.Pro643=
ENST00000003084.10:c.2112A>G	ENSP00000003084.6:p.Pro704=
ENST00000426809.5:c.2022A>G	ENSP00000389119.1:p.Pro674=
NM_000492.3:c.2112A>G , LRG_663t1:c.2112A>G	NP_000483.3:p.Pro704=
XM_011515751.1:c.2202A>G	XP_011514053.1:p.Pro734=
XM_011515752.1:c.2202A>G	XP_011514054.1:p.Pro734=
XM_011515753.1:c.1869A>G	XP_011514055.1:p.Pro623=
XM_011515754.1:c.1869A>G	XP_011514056.1:p.Pro623=
NM_000492.4:c.2112A>G MANE Select	NP_000483.3:p.Pro704=