Canonical Allele Identifier: CA325536

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7142
• ClinVar RCV Id: RCV000007562 ; RCV000211256 ; RCV000224595 ; RCV001831533 ; RCV002247261 ; RCV003473020
• dbSNP Id: rs121909013
• gnomAD v2: 7-117227859-G-A
• gnomAD v4: 7-117587805-G-A
• MyVariant Identifiers: chr7:g.117227859G>A (hg19) ; chr7:g.117587805G>A (hg38)
• PubMed: PMID:1722350 ; PMID:1944451 ; PMID:7544788 ; PMID:7606851 ; PMID:9379898 ; PMID:10798368 ; PMID:11242048 ; PMID:22293084 ; PMID:22992668 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587805G>A , CM000669.2:g.117587805G>A	GRCh38
NC_000007.13:g.117227859G>A , CM000669.1:g.117227859G>A	GRCh37
NC_000007.12:g.117015095G>A	NCBI36
NG_016465.4:g.127022G>A , LRG_663:g.127022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1651G>A	ENSP00000497673.2:p.Gly551Ser
ENST00000647978.2:c.*1365G>A	ENSP00000497658.1:n.*1365G>A
ENST00000649781.2:c.1468G>A	ENSP00000497203.1:p.Gly490Ser
ENST00000685018.2:c.1651G>A	ENSP00000510194.2:p.Gly551Ser
ENST00000687278.2:c.1651G>A	ENSP00000509593.2:p.Gly551Ser
ENST00000699585.1:c.1651G>A	ENSP00000514456.1:p.Gly551Ser
ENST00000699598.1:c.1651G>A	ENSP00000514467.1:p.Gly551Ser
ENST00000699599.1:c.1651G>A	ENSP00000514468.1:p.Gly551Ser
ENST00000699600.1:c.1651G>A	ENSP00000514469.1:p.Gly551Ser
ENST00000699601.1:c.1651G>A	ENSP00000514470.1:p.Gly551Ser
ENST00000699602.1:c.1651G>A	ENSP00000514471.1:p.Gly551Ser
ENST00000699604.1:c.*1475G>A	ENSP00000514472.1:n.*1475G>A
ENST00000699605.1:c.1225G>A	ENSP00000514473.1:p.Gly409Ser
ENST00000003084.11:c.1651G>A MANE Select	ENSP00000003084.6:p.Gly551Ser
ENST00000647978.1:c.*1365G>A	ENSP00000497658.1:n.*1365G>A
ENST00000648260.1:c.1402-15021G>A	ENSP00000497957.1:n.1402-15021G>A
ENST00000649406.1:c.1468G>A	ENSP00000497965.1:p.Gly490Ser
ENST00000649781.1:c.1468G>A	ENSP00000497203.1:p.Gly490Ser
ENST00000003084.10:c.1651G>A	ENSP00000003084.6:p.Gly551Ser
ENST00000426809.5:c.1561G>A	ENSP00000389119.1:p.Gly521Ser
NM_000492.3:c.1651G>A , LRG_663t1:c.1651G>A	NP_000483.3:p.Gly551Ser
XM_011515751.1:c.1741G>A	XP_011514053.1:p.Gly581Ser
XM_011515752.1:c.1741G>A	XP_011514054.1:p.Gly581Ser
XM_011515753.1:c.1408G>A	XP_011514055.1:p.Gly470Ser
XM_011515754.1:c.1408G>A	XP_011514056.1:p.Gly470Ser
NM_000492.4:c.1651G>A MANE Select	NP_000483.3:p.Gly551Ser