Canonical Allele Identifier: CA2684619520

Gene: CFTR

Linked Data

• gnomAD v4: 7-117594882-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117594882C>A , CM000669.2:g.117594882C>A	GRCh38
NC_000007.13:g.117234936C>A , CM000669.1:g.117234936C>A	GRCh37
NC_000007.12:g.117022172C>A	NCBI36
NG_016465.4:g.134099C>A , LRG_663:g.134099C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2491-48C>A	ENSP00000497673.2:n.2491-48C>A
ENST00000647978.2:c.*2205-48C>A	ENSP00000497658.1:n.*2205-48C>A
ENST00000649781.2:c.2308-48C>A	ENSP00000497203.1:n.2308-48C>A
ENST00000685018.2:c.2491-48C>A	ENSP00000510194.2:n.2491-48C>A
ENST00000687278.2:c.2491-48C>A	ENSP00000509593.2:n.2491-48C>A
ENST00000699585.1:c.2491-48C>A	ENSP00000514456.1:n.2491-48C>A
ENST00000699598.1:c.2491-48C>A	ENSP00000514467.1:n.2491-48C>A
ENST00000699599.1:c.2491-48C>A	ENSP00000514468.1:n.2491-48C>A
ENST00000699600.1:c.2491-48C>A	ENSP00000514469.1:n.2491-48C>A
ENST00000699601.1:c.*791-48C>A	ENSP00000514470.1:n.*791-48C>A
ENST00000699602.1:c.2491-48C>A	ENSP00000514471.1:n.2491-48C>A
ENST00000699604.1:c.*2315-48C>A	ENSP00000514472.1:n.*2315-48C>A
ENST00000699605.1:c.2065-48C>A	ENSP00000514473.1:n.2065-48C>A
ENST00000687278.1:c.82-48C>A	ENSP00000509593.1:n.82-48C>A
ENST00000003084.11:c.2491-48C>A MANE Select	ENSP00000003084.6:n.2491-48C>A
ENST00000647720.1:c.141-48C>A
ENST00000647978.1:c.*2205-48C>A	ENSP00000497658.1:n.*2205-48C>A
ENST00000648260.1:c.1402-7944C>A	ENSP00000497957.1:n.1402-7944C>A
ENST00000649406.1:c.2308-48C>A	ENSP00000497965.1:n.2308-48C>A
ENST00000649781.1:c.2308-48C>A	ENSP00000497203.1:n.2308-48C>A
ENST00000003084.10:c.2491-48C>A	ENSP00000003084.6:n.2491-48C>A
ENST00000426809.5:c.2401-48C>A	ENSP00000389119.1:n.2401-48C>A
NM_000492.3:c.2491-48C>A , LRG_663t1:c.2491-48C>A	NP_000483.3:n.2491-48C>A
XM_011515751.1:c.2581-48C>A	XP_011514053.1:n.2581-48C>A
XM_011515752.1:c.2581-48C>A	XP_011514054.1:n.2581-48C>A
XM_011515753.1:c.2248-48C>A	XP_011514055.1:n.2248-48C>A
XM_011515754.1:c.2248-48C>A	XP_011514056.1:n.2248-48C>A
NM_000492.4:c.2491-48C>A MANE Select	NP_000483.3:n.2491-48C>A