Canonical Allele Identifier: CA457448938

Gene: CFTR

Linked Data

• gnomAD v4: 7-117592576-T-G
• MyVariant Identifiers: chr7:g.117232630T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592576T>G , CM000669.2:g.117592576T>G	GRCh38
NC_000007.13:g.117232630T>G , CM000669.1:g.117232630T>G	GRCh37
NC_000007.12:g.117019866T>G	NCBI36
NG_016465.4:g.131793T>G , LRG_663:g.131793T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2409T>G	ENSP00000497673.2:p.Thr803=
ENST00000647978.2:c.*2123T>G	ENSP00000497658.1:n.*2123T>G
ENST00000649781.2:c.2226T>G	ENSP00000497203.1:p.Thr742=
ENST00000685018.2:c.2409T>G	ENSP00000510194.2:p.Thr803=
ENST00000687278.2:c.2409T>G	ENSP00000509593.2:p.Thr803=
ENST00000699585.1:c.2409T>G	ENSP00000514456.1:p.Thr803=
ENST00000699598.1:c.2409T>G	ENSP00000514467.1:p.Thr803=
ENST00000699599.1:c.2409T>G	ENSP00000514468.1:p.Thr803=
ENST00000699600.1:c.2409T>G	ENSP00000514469.1:p.Thr803=
ENST00000699601.1:c.*709T>G	ENSP00000514470.1:n.*709T>G
ENST00000699602.1:c.2409T>G	ENSP00000514471.1:p.Thr803=
ENST00000699604.1:c.*2233T>G	ENSP00000514472.1:n.*2233T>G
ENST00000699605.1:c.1983T>G	ENSP00000514473.1:p.Thr661=
ENST00000003084.11:c.2409T>G MANE Select	ENSP00000003084.6:p.Thr803=
ENST00000647720.1:c.59T>G
ENST00000647978.1:c.*2123T>G	ENSP00000497658.1:n.*2123T>G
ENST00000648260.1:c.1402-10250T>G	ENSP00000497957.1:n.1402-10250T>G
ENST00000649406.1:c.2226T>G	ENSP00000497965.1:p.Thr742=
ENST00000649781.1:c.2226T>G	ENSP00000497203.1:p.Thr742=
ENST00000003084.10:c.2409T>G	ENSP00000003084.6:p.Thr803=
ENST00000426809.5:c.2319T>G	ENSP00000389119.1:p.Thr773=
NM_000492.3:c.2409T>G , LRG_663t1:c.2409T>G	NP_000483.3:p.Thr803=
XM_011515751.1:c.2499T>G	XP_011514053.1:p.Thr833=
XM_011515752.1:c.2499T>G	XP_011514054.1:p.Thr833=
XM_011515753.1:c.2166T>G	XP_011514055.1:p.Thr722=
XM_011515754.1:c.2166T>G	XP_011514056.1:p.Thr722=
NM_000492.4:c.2409T>G MANE Select	NP_000483.3:p.Thr803=