Canonical Allele Identifier: CA577224042

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1734899
• ClinVar RCV Id: RCV002351181
• dbSNP Id: rs1487240954
• gnomAD v2: 7-117282561-AC-A
• gnomAD v4: 7-117642507-AC-A
• MyVariant Identifiers: chr7:g.117282562del (hg19) ; chr7:g.117642508del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642508del , CM000669.2:g.117642508del	GRCh38
NC_000007.13:g.117282562del , CM000669.1:g.117282562del	GRCh37
NC_000007.12:g.117069798del	NCBI36
NG_016465.4:g.181725del , LRG_663:g.181725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3588del	ENSP00000497673.2:p.Ter1197GluextTer?
ENST00000647978.2:c.*3502del	ENSP00000497658.1:n.*3502del
ENST00000649781.2:c.3605del	ENSP00000497203.1:p.Thr1202MetfsTer15
ENST00000685018.2:c.3788del	ENSP00000510194.2:p.Thr1263MetfsTer15
ENST00000687278.2:c.*441del	ENSP00000509593.2:n.*441del
ENST00000699585.1:c.3588del	ENSP00000514456.1:p.Ter1197GluextTer?
ENST00000699598.1:c.3788del	ENSP00000514467.1:p.Thr1263MetfsTer15
ENST00000699599.1:c.3788del	ENSP00000514468.1:p.Thr1263MetfsTer15
ENST00000699600.1:c.*449del	ENSP00000514469.1:n.*449del
ENST00000699601.1:c.*2163del	ENSP00000514470.1:n.*2163del
ENST00000699602.1:c.3782del	ENSP00000514471.1:p.Thr1261MetfsTer15
ENST00000699604.1:c.*3612del	ENSP00000514472.1:n.*3612del
ENST00000699605.1:c.3362del	ENSP00000514473.1:p.Thr1121MetfsTer15
ENST00000685018.1:c.536del	ENSP00000510194.1:p.Thr179MetfsTer15
ENST00000687278.1:c.1575del	ENSP00000509593.1:n.1575del
ENST00000689011.1:c.370del
ENST00000003084.11:c.3788del MANE Select	ENSP00000003084.6:p.Thr1263MetfsTer15
ENST00000647720.1:c.1238del
ENST00000649781.1:c.3605del	ENSP00000497203.1:p.Thr1202MetfsTer15
ENST00000003084.10:c.3788del	ENSP00000003084.6:p.Thr1263MetfsTer15
ENST00000426809.5:c.3698del	ENSP00000389119.1:p.Thr1233MetfsTer15
NM_000492.3:c.3788del , LRG_663t1:c.3788del	NP_000483.3:p.Thr1263MetfsTer15
XM_011515751.1:c.3878del	XP_011514053.1:p.Thr1293MetfsTer15
XM_011515752.1:c.3878del	XP_011514054.1:p.Thr1293MetfsTer15
XM_011515753.1:c.3545del	XP_011514055.1:p.Thr1182MetfsTer15
XM_011515754.1:c.3545del	XP_011514056.1:p.Thr1182MetfsTer15
NM_000492.4:c.3788del MANE Select	NP_000483.3:p.Thr1263MetfsTer15