Canonical Allele Identifier: CA340647

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7143
• ClinVar RCV Id: RCV000007563 ; RCV000224170 ; RCV001004234 ; RCV001831534 ; RCV002490334 ; RCV003473021
• dbSNP Id: rs75961395
• ExAC: 7:117149177 G / A
• gnomAD v2: 7-117149177-G-A
• gnomAD v3: 7-117509123-G-A
• gnomAD v4: 7-117509123-G-A
• MyVariant Identifiers: chr7:g.117149177G>A (hg19) ; chr7:g.117509123G>A (hg38)
• PubMed: PMID:1710599 ; PMID:1757965 ; PMID:3110945 ; PMID:11280952 ; PMID:23891399 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117509123G>A , CM000669.2:g.117509123G>A	GRCh38
NC_000007.13:g.117149177G>A , CM000669.1:g.117149177G>A	GRCh37
NC_000007.12:g.116936413G>A	NCBI36
NG_016465.4:g.48340G>A , LRG_663:g.48340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.254G>A	ENSP00000497673.2:p.Gly85Glu
ENST00000647978.2:c.*151G>A	ENSP00000497658.1:n.*151G>A
ENST00000649781.2:c.254G>A	ENSP00000497203.1:p.Gly85Glu
ENST00000649850.2:c.*151G>A	ENSP00000514457.1:n.*151G>A
ENST00000685018.2:c.254G>A	ENSP00000510194.2:p.Gly85Glu
ENST00000687278.2:c.254G>A	ENSP00000509593.2:p.Gly85Glu
ENST00000699585.1:c.254G>A	ENSP00000514456.1:p.Gly85Glu
ENST00000699596.1:c.254G>A	ENSP00000514465.1:p.Gly85Glu
ENST00000699597.1:c.254G>A	ENSP00000514466.1:p.Gly85Glu
ENST00000699598.1:c.254G>A	ENSP00000514467.1:p.Gly85Glu
ENST00000699599.1:c.254G>A	ENSP00000514468.1:p.Gly85Glu
ENST00000699600.1:c.254G>A	ENSP00000514469.1:p.Gly85Glu
ENST00000699601.1:c.254G>A	ENSP00000514470.1:p.Gly85Glu
ENST00000699602.1:c.254G>A	ENSP00000514471.1:p.Gly85Glu
ENST00000699604.1:c.*78G>A	ENSP00000514472.1:n.*78G>A
ENST00000699605.1:c.11G>A	ENSP00000514473.1:p.Gly4Glu
ENST00000446805.2:c.11G>A	ENSP00000417012.1:p.Gly4Glu
ENST00000003084.11:c.254G>A MANE Select	ENSP00000003084.6:p.Gly85Glu
ENST00000647639.1:n.338G>A
ENST00000647978.1:c.*151G>A	ENSP00000497658.1:n.*151G>A
ENST00000648260.1:c.254G>A	ENSP00000497957.1:p.Gly85Glu
ENST00000649406.1:c.254G>A	ENSP00000497965.1:p.Gly85Glu
ENST00000649781.1:c.254G>A	ENSP00000497203.1:p.Gly85Glu
ENST00000649850.1:n.411G>A
ENST00000673785.1:c.11G>A	ENSP00000501235.1:p.Gly4Glu
ENST00000003084.10:c.254G>A	ENSP00000003084.6:p.Gly85Glu
ENST00000426809.5:c.254G>A	ENSP00000389119.1:p.Gly85Glu
ENST00000446805.1:c.11G>A	ENSP00000417012.1:p.Gly4Glu
NM_000492.3:c.254G>A , LRG_663t1:c.254G>A	NP_000483.3:p.Gly85Glu
XM_011515751.1:c.344G>A	XP_011514053.1:p.Gly115Glu
XM_011515752.1:c.344G>A	XP_011514054.1:p.Gly115Glu
XM_011515753.1:c.11G>A	XP_011514055.1:p.Gly4Glu
XM_011515754.1:c.11G>A	XP_011514056.1:p.Gly4Glu
NM_000492.4:c.254G>A MANE Select	NP_000483.3:p.Gly85Glu