Canonical Allele Identifier: CA326821

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2680717
• ClinVar RCV Id: RCV003475696
• dbSNP Id: rs397508379
• gnomAD v4: 7-117592634-G-T
• COSMIC: COSM5496718
• MyVariant Identifiers: chr7:g.117232688G>T (hg19) ; chr7:g.117592634G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592634G>T , CM000669.2:g.117592634G>T	GRCh38
NC_000007.13:g.117232688G>T , CM000669.1:g.117232688G>T	GRCh37
NC_000007.12:g.117019924G>T	NCBI36
NG_016465.4:g.131851G>T , LRG_663:g.131851G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2467G>T	ENSP00000497673.2:p.Glu823Ter
ENST00000647978.2:c.*2181G>T	ENSP00000497658.1:n.*2181G>T
ENST00000649781.2:c.2284G>T	ENSP00000497203.1:p.Glu762Ter
ENST00000685018.2:c.2467G>T	ENSP00000510194.2:p.Glu823Ter
ENST00000687278.2:c.2467G>T	ENSP00000509593.2:p.Glu823Ter
ENST00000699585.1:c.2467G>T	ENSP00000514456.1:p.Glu823Ter
ENST00000699598.1:c.2467G>T	ENSP00000514467.1:p.Glu823Ter
ENST00000699599.1:c.2467G>T	ENSP00000514468.1:p.Glu823Ter
ENST00000699600.1:c.2467G>T	ENSP00000514469.1:p.Glu823Ter
ENST00000699601.1:c.*767G>T	ENSP00000514470.1:n.*767G>T
ENST00000699602.1:c.2467G>T	ENSP00000514471.1:p.Glu823Ter
ENST00000699604.1:c.*2291G>T	ENSP00000514472.1:n.*2291G>T
ENST00000699605.1:c.2041G>T	ENSP00000514473.1:p.Glu681Ter
ENST00000687278.1:c.58G>T	ENSP00000509593.1:p.Glu20Ter
ENST00000003084.11:c.2467G>T MANE Select	ENSP00000003084.6:p.Glu823Ter
ENST00000647720.1:c.117G>T
ENST00000647978.1:c.*2181G>T	ENSP00000497658.1:n.*2181G>T
ENST00000648260.1:c.1402-10192G>T	ENSP00000497957.1:n.1402-10192G>T
ENST00000649406.1:c.2284G>T	ENSP00000497965.1:p.Glu762Ter
ENST00000649781.1:c.2284G>T	ENSP00000497203.1:p.Glu762Ter
ENST00000003084.10:c.2467G>T	ENSP00000003084.6:p.Glu823Ter
ENST00000426809.5:c.2377G>T	ENSP00000389119.1:p.Glu793Ter
NM_000492.3:c.2467G>T , LRG_663t1:c.2467G>T	NP_000483.3:p.Glu823Ter
XM_011515751.1:c.2557G>T	XP_011514053.1:p.Glu853Ter
XM_011515752.1:c.2557G>T	XP_011514054.1:p.Glu853Ter
XM_011515753.1:c.2224G>T	XP_011514055.1:p.Glu742Ter
XM_011515754.1:c.2224G>T	XP_011514056.1:p.Glu742Ter
NM_000492.4:c.2467G>T MANE Select	NP_000483.3:p.Glu823Ter