Canonical Allele Identifier: CA368976135

Gene: CFTR

Linked Data

• gnomAD v4: 7-117587814-G-A
• MyVariant Identifiers: chr7:g.117227868G>A (hg19) ; chr7:g.117587814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587814G>A , CM000669.2:g.117587814G>A	GRCh38
NC_000007.13:g.117227868G>A , CM000669.1:g.117227868G>A	GRCh37
NC_000007.12:g.117015104G>A	NCBI36
NG_016465.4:g.127031G>A , LRG_663:g.127031G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1660G>A	ENSP00000497673.2:p.Ala554Thr
ENST00000647978.2:c.*1374G>A	ENSP00000497658.1:n.*1374G>A
ENST00000649781.2:c.1477G>A	ENSP00000497203.1:p.Ala493Thr
ENST00000685018.2:c.1660G>A	ENSP00000510194.2:p.Ala554Thr
ENST00000687278.2:c.1660G>A	ENSP00000509593.2:p.Ala554Thr
ENST00000699585.1:c.1660G>A	ENSP00000514456.1:p.Ala554Thr
ENST00000699598.1:c.1660G>A	ENSP00000514467.1:p.Ala554Thr
ENST00000699599.1:c.1660G>A	ENSP00000514468.1:p.Ala554Thr
ENST00000699600.1:c.1660G>A	ENSP00000514469.1:p.Ala554Thr
ENST00000699601.1:c.1660G>A	ENSP00000514470.1:p.Ala554Thr
ENST00000699602.1:c.1660G>A	ENSP00000514471.1:p.Ala554Thr
ENST00000699604.1:c.*1484G>A	ENSP00000514472.1:n.*1484G>A
ENST00000699605.1:c.1234G>A	ENSP00000514473.1:p.Ala412Thr
ENST00000003084.11:c.1660G>A MANE Select	ENSP00000003084.6:p.Ala554Thr
ENST00000647978.1:c.*1374G>A	ENSP00000497658.1:n.*1374G>A
ENST00000648260.1:c.1402-15012G>A	ENSP00000497957.1:n.1402-15012G>A
ENST00000649406.1:c.1477G>A	ENSP00000497965.1:p.Ala493Thr
ENST00000649781.1:c.1477G>A	ENSP00000497203.1:p.Ala493Thr
ENST00000003084.10:c.1660G>A	ENSP00000003084.6:p.Ala554Thr
ENST00000426809.5:c.1570G>A	ENSP00000389119.1:p.Ala524Thr
NM_000492.3:c.1660G>A , LRG_663t1:c.1660G>A	NP_000483.3:p.Ala554Thr
XM_011515751.1:c.1750G>A	XP_011514053.1:p.Ala584Thr
XM_011515752.1:c.1750G>A	XP_011514054.1:p.Ala584Thr
XM_011515753.1:c.1417G>A	XP_011514055.1:p.Ala473Thr
XM_011515754.1:c.1417G>A	XP_011514056.1:p.Ala473Thr
NM_000492.4:c.1660G>A MANE Select	NP_000483.3:p.Ala554Thr