Canonical Allele Identifier: CA274372

Gene: CFTR

Linked Data

• ClinVar Variation Id: 189095
• ClinVar RCV Id: RCV000169503 ; RCV000790771 ; RCV001027912
• dbSNP Id: rs786204693
• gnomAD v4: 7-117536648-G-GA
• MyVariant Identifiers: chr7:g.117176708dupA (hg19) ; chr7:g.117536654dupA (hg38)
• PubMed: PMID:7684644 ; PMID:16488363

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117536654dup , CM000669.2:g.117536654dup	GRCh38
NC_000007.13:g.117176708dup , CM000669.1:g.117176708dup	GRCh37
NC_000007.12:g.116963944dup	NCBI36
NG_016465.4:g.75871dup , LRG_663:g.75871dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.850dup	ENSP00000497673.2:p.Met284AsnfsTer3
ENST00000647978.2:c.*747dup	ENSP00000497658.1:n.*747dup
ENST00000649781.2:c.850dup	ENSP00000497203.1:p.Met284AsnfsTer3
ENST00000685018.2:c.850dup	ENSP00000510194.2:p.Met284AsnfsTer3
ENST00000687278.2:c.850dup	ENSP00000509593.2:p.Met284AsnfsTer3
ENST00000699585.1:c.850dup	ENSP00000514456.1:p.Met284AsnfsTer3
ENST00000699596.1:c.850dup	ENSP00000514465.1:p.Met284AsnfsTer3
ENST00000699597.1:c.850dup	ENSP00000514466.1:p.Met284AsnfsTer3
ENST00000699598.1:c.850dup	ENSP00000514467.1:p.Met284AsnfsTer3
ENST00000699599.1:c.850dup	ENSP00000514468.1:p.Met284AsnfsTer3
ENST00000699600.1:c.850dup	ENSP00000514469.1:p.Met284AsnfsTer3
ENST00000699601.1:c.850dup	ENSP00000514470.1:p.Met284AsnfsTer3
ENST00000699602.1:c.850dup	ENSP00000514471.1:p.Met284AsnfsTer3
ENST00000699604.1:c.*674dup	ENSP00000514472.1:n.*674dup
ENST00000699605.1:c.607dup	ENSP00000514473.1:p.Met203AsnfsTer3
ENST00000003084.11:c.850dup MANE Select	ENSP00000003084.6:p.Met284AsnfsTer3
ENST00000647978.1:c.*747dup	ENSP00000497658.1:n.*747dup
ENST00000648260.1:c.850dup	ENSP00000497957.1:p.Met284AsnfsTer3
ENST00000649406.1:c.850dup	ENSP00000497965.1:p.Met284AsnfsTer3
ENST00000649781.1:c.850dup	ENSP00000497203.1:p.Met284AsnfsTer3
ENST00000673785.1:c.607dup	ENSP00000501235.1:p.Met203AsnfsTer3
ENST00000003084.10:c.850dup	ENSP00000003084.6:p.Met284AsnfsTer3
ENST00000426809.5:c.760dup	ENSP00000389119.1:p.Met254AsnfsTer3
NM_000492.3:c.850dup , LRG_663t1:c.850dup	NP_000483.3:p.Met284AsnfsTer3
XM_011515751.1:c.940dup	XP_011514053.1:p.Met314AsnfsTer3
XM_011515752.1:c.940dup	XP_011514054.1:p.Met314AsnfsTer3
XM_011515753.1:c.607dup	XP_011514055.1:p.Met203AsnfsTer3
XM_011515754.1:c.607dup	XP_011514056.1:p.Met203AsnfsTer3
NM_000492.4:c.850dup MANE Select	NP_000483.3:p.Met284AsnfsTer3