Canonical Allele Identifier: CA368989060

Gene: CFTR

Linked Data

• dbSNP Id: rs2116069572
• gnomAD v4: 7-117606706-G-A
• MyVariant Identifiers: chr7:g.117246760G>A (hg19) ; chr7:g.117606706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606706G>A , CM000669.2:g.117606706G>A	GRCh38
NC_000007.13:g.117246760G>A , CM000669.1:g.117246760G>A	GRCh37
NC_000007.12:g.117033996G>A	NCBI36
NG_016465.4:g.145923G>A , LRG_663:g.145923G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2941G>A	ENSP00000497673.2:p.Ala981Thr
ENST00000647978.2:c.*2655G>A	ENSP00000497658.1:n.*2655G>A
ENST00000649781.2:c.2758G>A	ENSP00000497203.1:p.Ala920Thr
ENST00000685018.2:c.2941G>A	ENSP00000510194.2:p.Ala981Thr
ENST00000687278.2:c.2941G>A	ENSP00000509593.2:p.Ala981Thr
ENST00000699585.1:c.2941G>A	ENSP00000514456.1:p.Ala981Thr
ENST00000699598.1:c.2941G>A	ENSP00000514467.1:p.Ala981Thr
ENST00000699599.1:c.2941G>A	ENSP00000514468.1:p.Ala981Thr
ENST00000699600.1:c.2941G>A	ENSP00000514469.1:p.Ala981Thr
ENST00000699601.1:c.*1241G>A	ENSP00000514470.1:n.*1241G>A
ENST00000699602.1:c.2941G>A	ENSP00000514471.1:p.Ala981Thr
ENST00000699604.1:c.*2765G>A	ENSP00000514472.1:n.*2765G>A
ENST00000699605.1:c.2515G>A	ENSP00000514473.1:p.Ala839Thr
ENST00000687278.1:c.532G>A	ENSP00000509593.1:p.Ala178Thr
ENST00000003084.11:c.2941G>A MANE Select	ENSP00000003084.6:p.Ala981Thr
ENST00000647720.1:c.591G>A
ENST00000648260.1:c.1723G>A	ENSP00000497957.1:p.Ala575Thr
ENST00000649406.1:c.2758G>A	ENSP00000497965.1:p.Ala920Thr
ENST00000649781.1:c.2758G>A	ENSP00000497203.1:p.Ala920Thr
ENST00000003084.10:c.2941G>A	ENSP00000003084.6:p.Ala981Thr
ENST00000426809.5:c.2851G>A	ENSP00000389119.1:p.Ala951Thr
NM_000492.3:c.2941G>A , LRG_663t1:c.2941G>A	NP_000483.3:p.Ala981Thr
XM_011515751.1:c.3031G>A	XP_011514053.1:p.Ala1011Thr
XM_011515752.1:c.3031G>A	XP_011514054.1:p.Ala1011Thr
XM_011515753.1:c.2698G>A	XP_011514055.1:p.Ala900Thr
XM_011515754.1:c.2698G>A	XP_011514056.1:p.Ala900Thr
NM_000492.4:c.2941G>A MANE Select	NP_000483.3:p.Ala981Thr