Canonical Allele Identifier: CA10623108

Gene: CFTR

Linked Data

• ClinVar Variation Id: 358743
• ClinVar RCV Id: RCV000333320 ; RCV000387656
• dbSNP Id: rs886061953
• gnomAD v2: 7-117308000-GA-G
• gnomAD v3: 7-117667946-GA-G
• gnomAD v4: 7-117667946-GA-G
• MyVariant Identifiers: chr7:g.117308004del (hg19) ; chr7:g.117308001del (hg19) ; chr7:g.117667950del (hg38) ; chr7:g.117667947del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667950del , CM000669.2:g.117667950del	GRCh38
NC_000007.13:g.117308004del , CM000669.1:g.117308004del	GRCh37
NC_000007.12:g.117095240del	NCBI36
NG_016465.4:g.207167del , LRG_663:g.207167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1494del	ENSP00000497673.2:n.*1494del
ENST00000647978.2:c.*4999del	ENSP00000497658.1:n.*4999del
ENST00000649781.2:c.*842del	ENSP00000497203.1:n.*842del
ENST00000685018.2:c.*1498del	ENSP00000510194.2:n.*1498del
ENST00000687278.2:c.*1051+193del	ENSP00000509593.2:n.*1051+193del
ENST00000699585.1:c.*1754del	ENSP00000514456.1:n.*1754del
ENST00000699598.1:c.*454+193del	ENSP00000514467.1:n.*454+193del
ENST00000699599.1:c.*961+193del	ENSP00000514468.1:n.*961+193del
ENST00000699600.1:c.*1059+193del	ENSP00000514469.1:n.*1059+193del
ENST00000699601.1:c.*3660del	ENSP00000514470.1:n.*3660del
ENST00000699602.1:c.*842del	ENSP00000514471.1:n.*842del
ENST00000699604.1:c.*5109del	ENSP00000514472.1:n.*5109del
ENST00000699605.1:c.*842del	ENSP00000514473.1:n.*842del
ENST00000699606.1:n.4796del
ENST00000685018.1:c.2149del	ENSP00000510194.1:n.2149del
ENST00000687278.1:c.2185+193del	ENSP00000509593.1:n.2185+193del
ENST00000689011.1:c.2127del
ENST00000003084.11:c.*842del MANE Select	ENSP00000003084.6:n.*842del
ENST00000647720.1:c.2735del
ENST00000003084.10:c.*842del	ENSP00000003084.6:n.*842del
ENST00000600166.1:c.368+2386del
NM_000492.3:c.*842del , LRG_663t1:c.*842del	NP_000483.3:n.*842del
XM_011515751.1:c.*842del	XP_011514053.1:n.*842del
XM_011515753.1:c.*842del	XP_011514055.1:n.*842del
XM_011515754.1:c.*842del	XP_011514056.1:n.*842del
NM_000492.4:c.*842del MANE Select	NP_000483.3:n.*842del