Canonical Allele Identifier: CA164957554

Gene: CFTR

Linked Data

• dbSNP Id: rs776736851
• MyVariant Identifiers: chr7:g.117300741_117300764del (hg19) ; chr7:g.117660687_117660710del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117660688_117660711del , CM000669.2:g.117660688_117660711del	GRCh38
NC_000007.13:g.117300742_117300765del , CM000669.1:g.117300742_117300765del	GRCh37
NC_000007.12:g.117087978_117088001del	NCBI36
NG_016465.4:g.199905_199928del , LRG_663:g.199905_199928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*173-4000_*173-3977del	ENSP00000497673.2:n.*173-4000_*173-3977del
ENST00000647978.2:c.*3678-4000_*3678-3977del	ENSP00000497658.1:n.*3678-4000_*3678-3977del
ENST00000649781.2:c.3781-4000_3781-3977del	ENSP00000497203.1:n.3781-4000_3781-3977del
ENST00000685018.2:c.*177-4000_*177-3977del	ENSP00000510194.2:n.*177-4000_*177-3977del
ENST00000687278.2:c.*617-4000_*617-3977del	ENSP00000509593.2:n.*617-4000_*617-3977del
ENST00000699585.1:c.*173-4000_*173-3977del	ENSP00000514456.1:n.*173-4000_*173-3977del
ENST00000699598.1:c.3964-4000_3964-3977del	ENSP00000514467.1:n.3964-4000_3964-3977del
ENST00000699599.1:c.*177-4000_*177-3977del	ENSP00000514468.1:n.*177-4000_*177-3977del
ENST00000699600.1:c.*625-4000_*625-3977del	ENSP00000514469.1:n.*625-4000_*625-3977del
ENST00000699601.1:c.*2339-4000_*2339-3977del	ENSP00000514470.1:n.*2339-4000_*2339-3977del
ENST00000699602.1:c.3958-4000_3958-3977del	ENSP00000514471.1:n.3958-4000_3958-3977del
ENST00000699604.1:c.*3788-4000_*3788-3977del	ENSP00000514472.1:n.*3788-4000_*3788-3977del
ENST00000699605.1:c.3538-4000_3538-3977del	ENSP00000514473.1:n.3538-4000_3538-3977del
ENST00000699606.1:n.2132-4000_2132-3977del
ENST00000685018.1:c.828-4000_828-3977del	ENSP00000510194.1:n.828-4000_828-3977del
ENST00000687278.1:c.1751-4000_1751-3977del	ENSP00000509593.1:n.1751-4000_1751-3977del
ENST00000689011.1:c.546-4000_546-3977del
ENST00000003084.11:c.3964-4000_3964-3977del MANE Select	ENSP00000003084.6:n.3964-4000_3964-3977del
ENST00000647720.1:c.1414-4000_1414-3977del
ENST00000649781.1:c.3781-4000_3781-3977del	ENSP00000497203.1:n.3781-4000_3781-3977del
ENST00000003084.10:c.3964-4000_3964-3977del	ENSP00000003084.6:n.3964-4000_3964-3977del
ENST00000426809.5:c.3874-4000_3874-3977del	ENSP00000389119.1:n.3874-4000_3874-3977del
ENST00000600166.1:c.90-4000_90-3977del
NM_000492.3:c.3964-4000_3964-3977del , LRG_663t1:c.3964-4000_3964-3977del	NP_000483.3:n.3964-4000_3964-3977del
XM_011515751.1:c.4054-4000_4054-3977del	XP_011514053.1:n.4054-4000_4054-3977del
XM_011515752.1:c.4054-4000_4054-3977del	XP_011514054.1:n.4054-4000_4054-3977del
XM_011515753.1:c.3721-4000_3721-3977del	XP_011514055.1:n.3721-4000_3721-3977del
XM_011515754.1:c.3721-4000_3721-3977del	XP_011514056.1:n.3721-4000_3721-3977del
NM_000492.4:c.3964-4000_3964-3977del MANE Select	NP_000483.3:n.3964-4000_3964-3977del