Canonical Allele Identifier: CA2578999925

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2731639
• ClinVar RCV Id: RCV003508755
• gnomAD v4: 7-117540358-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540358T>G , CM000669.2:g.117540358T>G	GRCh38
NC_000007.13:g.117180412T>G , CM000669.1:g.117180412T>G	GRCh37
NC_000007.12:g.116967648T>G	NCBI36
NG_016465.4:g.79575T>G , LRG_663:g.79575T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1116+12T>G	ENSP00000497673.2:n.1116+12T>G
ENST00000647978.2:c.*1013+12T>G	ENSP00000497658.1:n.*1013+12T>G
ENST00000649781.2:c.1116+12T>G	ENSP00000497203.1:n.1116+12T>G
ENST00000685018.2:c.1116+12T>G	ENSP00000510194.2:n.1116+12T>G
ENST00000687278.2:c.1116+12T>G	ENSP00000509593.2:n.1116+12T>G
ENST00000699585.1:c.1116+12T>G	ENSP00000514456.1:n.1116+12T>G
ENST00000699596.1:c.1116+12T>G	ENSP00000514465.1:n.1116+12T>G
ENST00000699597.1:c.1116+12T>G	ENSP00000514466.1:n.1116+12T>G
ENST00000699598.1:c.1116+12T>G	ENSP00000514467.1:n.1116+12T>G
ENST00000699599.1:c.1116+12T>G	ENSP00000514468.1:n.1116+12T>G
ENST00000699600.1:c.1116+12T>G	ENSP00000514469.1:n.1116+12T>G
ENST00000699601.1:c.1116+12T>G	ENSP00000514470.1:n.1116+12T>G
ENST00000699602.1:c.1116+12T>G	ENSP00000514471.1:n.1116+12T>G
ENST00000699604.1:c.*940+12T>G	ENSP00000514472.1:n.*940+12T>G
ENST00000699605.1:c.873+12T>G	ENSP00000514473.1:n.873+12T>G
ENST00000003084.11:c.1116+12T>G MANE Select	ENSP00000003084.6:n.1116+12T>G
ENST00000647978.1:c.*1013+12T>G	ENSP00000497658.1:n.*1013+12T>G
ENST00000648260.1:c.1116+12T>G	ENSP00000497957.1:n.1116+12T>G
ENST00000649406.1:c.1116+12T>G	ENSP00000497965.1:n.1116+12T>G
ENST00000649781.1:c.1116+12T>G	ENSP00000497203.1:n.1116+12T>G
ENST00000673785.1:c.873+12T>G	ENSP00000501235.1:n.873+12T>G
ENST00000003084.10:c.1116+12T>G	ENSP00000003084.6:n.1116+12T>G
ENST00000426809.5:c.1026+12T>G	ENSP00000389119.1:n.1026+12T>G
NM_000492.3:c.1116+12T>G , LRG_663t1:c.1116+12T>G	NP_000483.3:n.1116+12T>G
XM_011515751.1:c.1206+12T>G	XP_011514053.1:n.1206+12T>G
XM_011515752.1:c.1206+12T>G	XP_011514054.1:n.1206+12T>G
XM_011515753.1:c.873+12T>G	XP_011514055.1:n.873+12T>G
XM_011515754.1:c.873+12T>G	XP_011514056.1:n.873+12T>G
NM_000492.4:c.1116+12T>G MANE Select	NP_000483.3:n.1116+12T>G