Canonical Allele Identifier: CA1737392338

Gene: CFTR

Linked Data

• dbSNP Id: rs1792460534

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614835T>A , CM000669.2:g.117614835T>A	GRCh38
NC_000007.13:g.117254889T>A , CM000669.1:g.117254889T>A	GRCh37
NC_000007.12:g.117042125T>A	NCBI36
NG_016465.4:g.154052T>A , LRG_663:g.154052T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3468+122T>A	ENSP00000497673.2:n.3468+122T>A
ENST00000647978.2:c.*3182+122T>A	ENSP00000497658.1:n.*3182+122T>A
ENST00000649781.2:c.3285+122T>A	ENSP00000497203.1:n.3285+122T>A
ENST00000685018.2:c.3468+122T>A	ENSP00000510194.2:n.3468+122T>A
ENST00000687278.2:c.3468+122T>A	ENSP00000509593.2:n.3468+122T>A
ENST00000699585.1:c.3468+122T>A	ENSP00000514456.1:n.3468+122T>A
ENST00000699598.1:c.3468+122T>A	ENSP00000514467.1:n.3468+122T>A
ENST00000699599.1:c.3468+122T>A	ENSP00000514468.1:n.3468+122T>A
ENST00000699600.1:c.3468+122T>A	ENSP00000514469.1:n.3468+122T>A
ENST00000699601.1:c.*1843+122T>A	ENSP00000514470.1:n.*1843+122T>A
ENST00000699602.1:c.3462+122T>A	ENSP00000514471.1:n.3462+122T>A
ENST00000699604.1:c.*3292+122T>A	ENSP00000514472.1:n.*3292+122T>A
ENST00000699605.1:c.3042+122T>A	ENSP00000514473.1:n.3042+122T>A
ENST00000685018.1:c.216+122T>A	ENSP00000510194.1:n.216+122T>A
ENST00000687278.1:c.1059+122T>A	ENSP00000509593.1:n.1059+122T>A
ENST00000689011.1:c.50+122T>A
ENST00000003084.11:c.3468+122T>A MANE Select	ENSP00000003084.6:n.3468+122T>A
ENST00000647720.1:c.1118+122T>A
ENST00000648260.1:c.2250+122T>A	ENSP00000497957.1:n.2250+122T>A
ENST00000649406.1:c.3285+122T>A	ENSP00000497965.1:n.3285+122T>A
ENST00000649781.1:c.3285+122T>A	ENSP00000497203.1:n.3285+122T>A
ENST00000003084.10:c.3468+122T>A	ENSP00000003084.6:n.3468+122T>A
ENST00000426809.5:c.3378+122T>A	ENSP00000389119.1:n.3378+122T>A
ENST00000468795.1:c.293+122T>A
NM_000492.3:c.3468+122T>A , LRG_663t1:c.3468+122T>A	NP_000483.3:n.3468+122T>A
XM_011515751.1:c.3558+122T>A	XP_011514053.1:n.3558+122T>A
XM_011515752.1:c.3558+122T>A	XP_011514054.1:n.3558+122T>A
XM_011515753.1:c.3225+122T>A	XP_011514055.1:n.3225+122T>A
XM_011515754.1:c.3225+122T>A	XP_011514056.1:n.3225+122T>A
NM_000492.4:c.3468+122T>A MANE Select	NP_000483.3:n.3468+122T>A