Canonical Allele Identifier: CA368993608

Gene: CFTR

Linked Data

• gnomAD v4: 7-117614681-G-A
• MyVariant Identifiers: chr7:g.117254735G>A (hg19) ; chr7:g.117614681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614681G>A , CM000669.2:g.117614681G>A	GRCh38
NC_000007.13:g.117254735G>A , CM000669.1:g.117254735G>A	GRCh37
NC_000007.12:g.117041971G>A	NCBI36
NG_016465.4:g.153898G>A , LRG_663:g.153898G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3436G>A	ENSP00000497673.2:p.Ala1146Thr
ENST00000647978.2:c.*3150G>A	ENSP00000497658.1:n.*3150G>A
ENST00000649781.2:c.3253G>A	ENSP00000497203.1:p.Ala1085Thr
ENST00000685018.2:c.3436G>A	ENSP00000510194.2:p.Ala1146Thr
ENST00000687278.2:c.3436G>A	ENSP00000509593.2:p.Ala1146Thr
ENST00000699585.1:c.3436G>A	ENSP00000514456.1:p.Ala1146Thr
ENST00000699598.1:c.3436G>A	ENSP00000514467.1:p.Ala1146Thr
ENST00000699599.1:c.3436G>A	ENSP00000514468.1:p.Ala1146Thr
ENST00000699600.1:c.3436G>A	ENSP00000514469.1:p.Ala1146Thr
ENST00000699601.1:c.*1811G>A	ENSP00000514470.1:n.*1811G>A
ENST00000699602.1:c.3430G>A	ENSP00000514471.1:p.Ala1144Thr
ENST00000699604.1:c.*3260G>A	ENSP00000514472.1:n.*3260G>A
ENST00000699605.1:c.3010G>A	ENSP00000514473.1:p.Ala1004Thr
ENST00000685018.1:c.184G>A	ENSP00000510194.1:p.Ala62Thr
ENST00000687278.1:c.1027G>A	ENSP00000509593.1:p.Ala343Thr
ENST00000689011.1:c.18G>A
ENST00000003084.11:c.3436G>A MANE Select	ENSP00000003084.6:p.Ala1146Thr
ENST00000647720.1:c.1086G>A
ENST00000648260.1:c.2218G>A	ENSP00000497957.1:p.Ala740Thr
ENST00000649406.1:c.3253G>A	ENSP00000497965.1:p.Ala1085Thr
ENST00000649781.1:c.3253G>A	ENSP00000497203.1:p.Ala1085Thr
ENST00000003084.10:c.3436G>A	ENSP00000003084.6:p.Ala1146Thr
ENST00000426809.5:c.3346G>A	ENSP00000389119.1:p.Ala1116Thr
ENST00000468795.1:c.261G>A
NM_000492.3:c.3436G>A , LRG_663t1:c.3436G>A	NP_000483.3:p.Ala1146Thr
XM_011515751.1:c.3526G>A	XP_011514053.1:p.Ala1176Thr
XM_011515752.1:c.3526G>A	XP_011514054.1:p.Ala1176Thr
XM_011515753.1:c.3193G>A	XP_011514055.1:p.Ala1065Thr
XM_011515754.1:c.3193G>A	XP_011514056.1:p.Ala1065Thr
NM_000492.4:c.3436G>A MANE Select	NP_000483.3:p.Ala1146Thr