Canonical Allele Identifier: CA10603814

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 281173
• ClinVar RCV Id: RCV000371586 ; RCV001195832 ; RCV001824720 ; RCV002248507
• dbSNP Id: rs3034796
• gnomAD v2: 7-117188715-GAAAGC-G
• MyVariant Identifiers: chr7:g.117188719_117188723del (hg19) ; chr7:g.117188716_117188720del (hg19) ; chr7:g.117548665_117548669del (hg38) ; chr7:g.117548662_117548666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548665_117548669del , CM000669.2:g.117548665_117548669del	GRCh38
NC_000007.13:g.117188719_117188723del , CM000669.1:g.117188719_117188723del	GRCh37
NC_000007.12:g.116975955_116975959del	NCBI36
NG_016465.4:g.87882_87886del , LRG_663:g.87882_87886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1234_1238del (CFTR)	ENSP00000497673.2:p.Ala412ThrfsTer4
ENST00000647978.2:c.*1106+6557_*1106+6561del (CFTR)	ENSP00000497658.1:n.*1106+6557_*1106+6561del
ENST00000649781.2:c.1209+6557_1209+6561del (CFTR)	ENSP00000497203.1:n.1209+6557_1209+6561del
ENST00000685018.2:c.1234_1238del (CFTR)	ENSP00000510194.2:p.Ala412ThrfsTer4
ENST00000687278.2:c.1234_1238del (CFTR)	ENSP00000509593.2:p.Ala412ThrfsTer4
ENST00000699585.1:c.1234_1238del (CFTR)	ENSP00000514456.1:p.Ala412ThrfsTer4
ENST00000699596.1:c.1234_1238del (CFTR)	ENSP00000514465.1:p.Ala412ThrfsTer4
ENST00000699597.1:c.1234_1238del (CFTR)	ENSP00000514466.1:p.Ala412ThrfsTer4
ENST00000699598.1:c.1234_1238del (CFTR)	ENSP00000514467.1:p.Ala412ThrfsTer4
ENST00000699599.1:c.1234_1238del (CFTR)	ENSP00000514468.1:p.Ala412ThrfsTer4
ENST00000699600.1:c.1234_1238del (CFTR)	ENSP00000514469.1:p.Ala412ThrfsTer4
ENST00000699601.1:c.1234_1238del (CFTR)	ENSP00000514470.1:p.Ala412ThrfsTer4
ENST00000699602.1:c.1234_1238del (CFTR)	ENSP00000514471.1:p.Ala412ThrfsTer4
ENST00000699604.1:c.*1058_*1062del (CFTR)	ENSP00000514472.1:n.*1058_*1062del
ENST00000699605.1:c.966+6557_966+6561del (CFTR)	ENSP00000514473.1:n.966+6557_966+6561del
ENST00000003084.11:c.1234_1238del (CFTR) MANE Select	ENSP00000003084.6:p.Ala412ThrfsTer4
ENST00000647978.1:c.*1106+6557_*1106+6561del (CFTR)	ENSP00000497658.1:n.*1106+6557_*1106+6561del
ENST00000648260.1:c.1209+6557_1209+6561del (CFTR)	ENSP00000497957.1:n.1209+6557_1209+6561del
ENST00000649406.1:c.1209+6557_1209+6561del (CFTR)	ENSP00000497965.1:n.1209+6557_1209+6561del
ENST00000649781.1:c.1209+6557_1209+6561del (CFTR)	ENSP00000497203.1:n.1209+6557_1209+6561del
ENST00000673785.1:c.991_995del (CFTR)	ENSP00000501235.1:p.Ala331ThrfsTer?
ENST00000003084.10:c.1234_1238del (CFTR)	ENSP00000003084.6:p.Ala412ThrfsTer4
ENST00000426809.5:c.1144_1148del (CFTR)	ENSP00000389119.1:p.Ala382ThrfsTer4
NM_000492.3:c.1234_1238del , LRG_663t1:c.1234_1238del (CFTR)	NP_000483.3:p.Ala412ThrfsTer4
XM_011515751.1:c.1324_1328del (CFTR)	XP_011514053.1:p.Ala442ThrfsTer4
XM_011515752.1:c.1324_1328del (CFTR)	XP_011514054.1:p.Ala442ThrfsTer4
XM_011515753.1:c.991_995del (CFTR)	XP_011514055.1:p.Ala331ThrfsTer4
XM_011515754.1:c.991_995del (CFTR)	XP_011514056.1:p.Ala331ThrfsTer4
NR_149084.1:n.222-6127_222-6123del (CFTR-AS1)
NM_000492.4:c.1234_1238del (CFTR) MANE Select	NP_000483.3:p.Ala412ThrfsTer4