Canonical Allele Identifier: CA328106

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53549
• ClinVar RCV Id: RCV000056369 ; RCV000224473 ; RCV001835660 ; RCV002490612 ; RCV000780139 ; RCV003473493
• dbSNP Id: rs121908791
• ExAC: 7:117149197 G / A
• gnomAD v2: 7-117149197-G-A
• gnomAD v3: 7-117509143-G-A
• gnomAD v4: 7-117509143-G-A
• MyVariant Identifiers: chr7:g.117149197G>A (hg19) ; chr7:g.117509143G>A (hg38)
• PubMed: PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117509143G>A , CM000669.2:g.117509143G>A	GRCh38
NC_000007.13:g.117149197G>A , CM000669.1:g.117149197G>A	GRCh37
NC_000007.12:g.116936433G>A	NCBI36
NG_016465.4:g.48360G>A , LRG_663:g.48360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.273+1G>A	ENSP00000497673.2:n.273+1G>A
ENST00000647978.2:c.*170+1G>A	ENSP00000497658.1:n.*170+1G>A
ENST00000649781.2:c.273+1G>A	ENSP00000497203.1:n.273+1G>A
ENST00000649850.2:c.*171G>A	ENSP00000514457.1:n.*171G>A
ENST00000685018.2:c.273+1G>A	ENSP00000510194.2:n.273+1G>A
ENST00000687278.2:c.273+1G>A	ENSP00000509593.2:n.273+1G>A
ENST00000699585.1:c.273+1G>A	ENSP00000514456.1:n.273+1G>A
ENST00000699596.1:c.273+1G>A	ENSP00000514465.1:n.273+1G>A
ENST00000699597.1:c.273+1G>A	ENSP00000514466.1:n.273+1G>A
ENST00000699598.1:c.273+1G>A	ENSP00000514467.1:n.273+1G>A
ENST00000699599.1:c.273+1G>A	ENSP00000514468.1:n.273+1G>A
ENST00000699600.1:c.273+1G>A	ENSP00000514469.1:n.273+1G>A
ENST00000699601.1:c.273+1G>A	ENSP00000514470.1:n.273+1G>A
ENST00000699602.1:c.273+1G>A	ENSP00000514471.1:n.273+1G>A
ENST00000699604.1:c.*97+1G>A	ENSP00000514472.1:n.*97+1G>A
ENST00000699605.1:c.30+1G>A	ENSP00000514473.1:n.30+1G>A
ENST00000446805.2:c.30+1G>A	ENSP00000417012.1:n.30+1G>A
ENST00000003084.11:c.273+1G>A MANE Select	ENSP00000003084.6:n.273+1G>A
ENST00000647639.1:n.357+1G>A
ENST00000647978.1:c.*170+1G>A	ENSP00000497658.1:n.*170+1G>A
ENST00000648260.1:c.273+1G>A	ENSP00000497957.1:n.273+1G>A
ENST00000649406.1:c.273+1G>A	ENSP00000497965.1:n.273+1G>A
ENST00000649781.1:c.273+1G>A	ENSP00000497203.1:n.273+1G>A
ENST00000649850.1:n.431G>A
ENST00000673785.1:c.30+1G>A	ENSP00000501235.1:n.30+1G>A
ENST00000003084.10:c.273+1G>A	ENSP00000003084.6:n.273+1G>A
ENST00000426809.5:c.273+1G>A	ENSP00000389119.1:n.273+1G>A
ENST00000446805.1:c.30+1G>A	ENSP00000417012.1:n.30+1G>A
NM_000492.3:c.273+1G>A , LRG_663t1:c.273+1G>A	NP_000483.3:n.273+1G>A
XM_011515751.1:c.363+1G>A	XP_011514053.1:n.363+1G>A
XM_011515752.1:c.363+1G>A	XP_011514054.1:n.363+1G>A
XM_011515753.1:c.30+1G>A	XP_011514055.1:n.30+1G>A
XM_011515754.1:c.30+1G>A	XP_011514056.1:n.30+1G>A
NM_000492.4:c.273+1G>A MANE Select	NP_000483.3:n.273+1G>A