Canonical Allele Identifier: CA327682

Gene: CFTR

Linked Data

• ClinVar Variation Id: 54079
• ClinVar RCV Id: RCV000577644
• dbSNP Id: rs397508813
• MyVariant Identifiers: chr7:g.117180165_117180166del (hg19) ; chr7:g.117540111_117540112del (hg38)
• PubMed: PMID:7533026

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540111_117540112del , CM000669.2:g.117540111_117540112del	GRCh38
NC_000007.13:g.117180165_117180166del , CM000669.1:g.117180165_117180166del	GRCh37
NC_000007.12:g.116967401_116967402del	NCBI36
NG_016465.4:g.79328_79329del , LRG_663:g.79328_79329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.881_882del	ENSP00000497673.2:p.Lys294ThrfsTer13
ENST00000647978.2:c.*778_*779del	ENSP00000497658.1:n.*778_*779del
ENST00000649781.2:c.881_882del	ENSP00000497203.1:p.Lys294ThrfsTer13
ENST00000685018.2:c.881_882del	ENSP00000510194.2:p.Lys294ThrfsTer13
ENST00000687278.2:c.881_882del	ENSP00000509593.2:p.Lys294ThrfsTer13
ENST00000699585.1:c.881_882del	ENSP00000514456.1:p.Lys294ThrfsTer13
ENST00000699596.1:c.881_882del	ENSP00000514465.1:p.Lys294ThrfsTer13
ENST00000699597.1:c.881_882del	ENSP00000514466.1:p.Lys294ThrfsTer13
ENST00000699598.1:c.881_882del	ENSP00000514467.1:p.Lys294ThrfsTer13
ENST00000699599.1:c.881_882del	ENSP00000514468.1:p.Lys294ThrfsTer13
ENST00000699600.1:c.881_882del	ENSP00000514469.1:p.Lys294ThrfsTer13
ENST00000699601.1:c.881_882del	ENSP00000514470.1:p.Lys294ThrfsTer13
ENST00000699602.1:c.881_882del	ENSP00000514471.1:p.Lys294ThrfsTer13
ENST00000699604.1:c.*705_*706del	ENSP00000514472.1:n.*705_*706del
ENST00000699605.1:c.638_639del	ENSP00000514473.1:p.Lys213ThrfsTer13
ENST00000003084.11:c.881_882del MANE Select	ENSP00000003084.6:p.Lys294ThrfsTer13
ENST00000647978.1:c.*778_*779del	ENSP00000497658.1:n.*778_*779del
ENST00000648260.1:c.881_882del	ENSP00000497957.1:p.Lys294ThrfsTer13
ENST00000649406.1:c.881_882del	ENSP00000497965.1:p.Lys294ThrfsTer13
ENST00000649781.1:c.881_882del	ENSP00000497203.1:p.Lys294ThrfsTer13
ENST00000673785.1:c.638_639del	ENSP00000501235.1:p.Lys213ThrfsTer13
ENST00000003084.10:c.881_882del	ENSP00000003084.6:p.Lys294ThrfsTer13
ENST00000426809.5:c.791_792del	ENSP00000389119.1:p.Lys264ThrfsTer13
NM_000492.3:c.881_882del , LRG_663t1:c.881_882del	NP_000483.3:p.Lys294ThrfsTer13
XM_011515751.1:c.971_972del	XP_011514053.1:p.Lys324ThrfsTer13
XM_011515752.1:c.971_972del	XP_011514054.1:p.Lys324ThrfsTer13
XM_011515753.1:c.638_639del	XP_011514055.1:p.Lys213ThrfsTer13
XM_011515754.1:c.638_639del	XP_011514056.1:p.Lys213ThrfsTer13
NM_000492.4:c.881_882del MANE Select	NP_000483.3:p.Lys294ThrfsTer13