Canonical Allele Identifier: CA328093

Gene: CFTR

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592292C>T , CM000669.2:g.117592292C>T	GRCh38
NC_000007.13:g.117232346C>T , CM000669.1:g.117232346C>T	GRCh37
NC_000007.12:g.117019582C>T	NCBI36
NG_016465.4:g.131509C>T , LRG_663:g.131509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2125C>T	ENSP00000497673.2:p.Arg709Ter
ENST00000647978.2:c.*1839C>T	ENSP00000497658.1:n.*1839C>T
ENST00000649781.2:c.1942C>T	ENSP00000497203.1:p.Arg648Ter
ENST00000685018.2:c.2125C>T	ENSP00000510194.2:p.Arg709Ter
ENST00000687278.2:c.2125C>T	ENSP00000509593.2:p.Arg709Ter
ENST00000699585.1:c.2125C>T	ENSP00000514456.1:p.Arg709Ter
ENST00000699598.1:c.2125C>T	ENSP00000514467.1:p.Arg709Ter
ENST00000699599.1:c.2125C>T	ENSP00000514468.1:p.Arg709Ter
ENST00000699600.1:c.2125C>T	ENSP00000514469.1:p.Arg709Ter
ENST00000699601.1:c.*425C>T	ENSP00000514470.1:n.*425C>T
ENST00000699602.1:c.2125C>T	ENSP00000514471.1:p.Arg709Ter
ENST00000699604.1:c.*1949C>T	ENSP00000514472.1:n.*1949C>T
ENST00000699605.1:c.1699C>T	ENSP00000514473.1:p.Arg567Ter
ENST00000003084.11:c.2125C>T MANE Select	ENSP00000003084.6:p.Arg709Ter
ENST00000647978.1:c.*1839C>T	ENSP00000497658.1:n.*1839C>T
ENST00000648260.1:c.1402-10534C>T	ENSP00000497957.1:n.1402-10534C>T
ENST00000649406.1:c.1942C>T	ENSP00000497965.1:p.Arg648Ter
ENST00000649781.1:c.1942C>T	ENSP00000497203.1:p.Arg648Ter
ENST00000003084.10:c.2125C>T	ENSP00000003084.6:p.Arg709Ter
ENST00000426809.5:c.2035C>T	ENSP00000389119.1:p.Arg679Ter
NM_000492.3:c.2125C>T , LRG_663t1:c.2125C>T	NP_000483.3:p.Arg709Ter
XM_011515751.1:c.2215C>T	XP_011514053.1:p.Arg739Ter
XM_011515752.1:c.2215C>T	XP_011514054.1:p.Arg739Ter
XM_011515753.1:c.1882C>T	XP_011514055.1:p.Arg628Ter
XM_011515754.1:c.1882C>T	XP_011514056.1:p.Arg628Ter
NM_000492.4:c.2125C>T MANE Select	NP_000483.3:p.Arg709Ter