Canonical Allele Identifier: CA164962780

Gene: CFTR

Linked Data

• dbSNP Id: rs924175415
• gnomAD v3: 7-117668143-TGAGA-T
• gnomAD v4: 7-117668143-TGAGA-T
• MyVariant Identifiers: chr7:g.117308198_117308201del (hg19) ; chr7:g.117668144_117668147del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668146_117668149del , CM000669.2:g.117668146_117668149del	GRCh38
NC_000007.13:g.117308200_117308203del , CM000669.1:g.117308200_117308203del	GRCh37
NC_000007.12:g.117095436_117095439del	NCBI36
NG_016465.4:g.207363_207366del , LRG_663:g.207363_207366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1690_*1693del	ENSP00000497673.2:n.*1690_*1693del
ENST00000647978.2:c.*5195_*5198del	ENSP00000497658.1:n.*5195_*5198del
ENST00000649781.2:c.*1038_*1041del	ENSP00000497203.1:n.*1038_*1041del
ENST00000685018.2:c.*1694_*1697del	ENSP00000510194.2:n.*1694_*1697del
ENST00000687278.2:c.*1052-333_*1052-330del	ENSP00000509593.2:n.*1052-333_*1052-330del
ENST00000699585.1:c.*1950_*1953del	ENSP00000514456.1:n.*1950_*1953del
ENST00000699598.1:c.*455-333_*455-330del	ENSP00000514467.1:n.*455-333_*455-330del
ENST00000699599.1:c.*962-333_*962-330del	ENSP00000514468.1:n.*962-333_*962-330del
ENST00000699600.1:c.*1060-333_*1060-330del	ENSP00000514469.1:n.*1060-333_*1060-330del
ENST00000699601.1:c.*3856_*3859del	ENSP00000514470.1:n.*3856_*3859del
ENST00000699602.1:c.*1038_*1041del	ENSP00000514471.1:n.*1038_*1041del
ENST00000699604.1:c.*5305_*5308del	ENSP00000514472.1:n.*5305_*5308del
ENST00000699605.1:c.*1038_*1041del	ENSP00000514473.1:n.*1038_*1041del
ENST00000699606.1:n.4992_4995del
ENST00000685018.1:c.2345_2348del	ENSP00000510194.1:n.2345_2348del
ENST00000687278.1:c.2186-333_2186-330del	ENSP00000509593.1:n.2186-333_2186-330del
ENST00000689011.1:c.2323_2326del
ENST00000003084.11:c.*1038_*1041del MANE Select	ENSP00000003084.6:n.*1038_*1041del
ENST00000647720.1:c.2931_2934del
ENST00000003084.10:c.*1038_*1041del	ENSP00000003084.6:n.*1038_*1041del
ENST00000600166.1:c.368+2582_368+2585del
NM_000492.3:c.*1038_*1041del , LRG_663t1:c.*1038_*1041del	NP_000483.3:n.*1038_*1041del
XM_011515751.1:c.*1038_*1041del	XP_011514053.1:n.*1038_*1041del
XM_011515753.1:c.*1038_*1041del	XP_011514055.1:n.*1038_*1041del
XM_011515754.1:c.*1038_*1041del	XP_011514056.1:n.*1038_*1041del
NM_000492.4:c.*1038_*1041del MANE Select	NP_000483.3:n.*1038_*1041del