Canonical Allele Identifier: CA2603608959

Gene: CFTR

Linked Data

• dbSNP Id: rs2116194945
• gnomAD v3: 7-117652708-T-G
• gnomAD v4: 7-117652708-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652708T>G , CM000669.2:g.117652708T>G	GRCh38
NC_000007.13:g.117292762T>G , CM000669.1:g.117292762T>G	GRCh37
NC_000007.12:g.117079998T>G	NCBI36
NG_016465.4:g.191925T>G , LRG_663:g.191925T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*83-134T>G	ENSP00000497673.2:n.*83-134T>G
ENST00000647978.2:c.*3588-134T>G	ENSP00000497658.1:n.*3588-134T>G
ENST00000649781.2:c.3691-134T>G	ENSP00000497203.1:n.3691-134T>G
ENST00000685018.2:c.*87-134T>G	ENSP00000510194.2:n.*87-134T>G
ENST00000687278.2:c.*527-134T>G	ENSP00000509593.2:n.*527-134T>G
ENST00000699585.1:c.*83-134T>G	ENSP00000514456.1:n.*83-134T>G
ENST00000699598.1:c.3874-134T>G	ENSP00000514467.1:n.3874-134T>G
ENST00000699599.1:c.*87-134T>G	ENSP00000514468.1:n.*87-134T>G
ENST00000699600.1:c.*535-134T>G	ENSP00000514469.1:n.*535-134T>G
ENST00000699601.1:c.*2249-134T>G	ENSP00000514470.1:n.*2249-134T>G
ENST00000699602.1:c.3868-134T>G	ENSP00000514471.1:n.3868-134T>G
ENST00000699604.1:c.*3698-134T>G	ENSP00000514472.1:n.*3698-134T>G
ENST00000699605.1:c.3448-134T>G	ENSP00000514473.1:n.3448-134T>G
ENST00000699606.1:n.1908T>G
ENST00000685018.1:c.738-134T>G	ENSP00000510194.1:n.738-134T>G
ENST00000687278.1:c.1661-134T>G	ENSP00000509593.1:n.1661-134T>G
ENST00000689011.1:c.456-134T>G
ENST00000003084.11:c.3874-134T>G MANE Select	ENSP00000003084.6:n.3874-134T>G
ENST00000647720.1:c.1324-134T>G
ENST00000649781.1:c.3691-134T>G	ENSP00000497203.1:n.3691-134T>G
ENST00000003084.10:c.3874-134T>G	ENSP00000003084.6:n.3874-134T>G
ENST00000426809.5:c.3784-134T>G	ENSP00000389119.1:n.3784-134T>G
NM_000492.3:c.3874-134T>G , LRG_663t1:c.3874-134T>G	NP_000483.3:n.3874-134T>G
XM_011515751.1:c.3964-134T>G	XP_011514053.1:n.3964-134T>G
XM_011515752.1:c.3964-134T>G	XP_011514054.1:n.3964-134T>G
XM_011515753.1:c.3631-134T>G	XP_011514055.1:n.3631-134T>G
XM_011515754.1:c.3631-134T>G	XP_011514056.1:n.3631-134T>G
NM_000492.4:c.3874-134T>G MANE Select	NP_000483.3:n.3874-134T>G