Canonical Allele Identifier: CA2684621673

Gene: CFTR

Linked Data

• gnomAD v4: 7-117668040-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668043del , CM000669.2:g.117668043del	GRCh38
NC_000007.13:g.117308097del , CM000669.1:g.117308097del	GRCh37
NC_000007.12:g.117095333del	NCBI36
NG_016465.4:g.207260del , LRG_663:g.207260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1587del	ENSP00000497673.2:n.*1587del
ENST00000647978.2:c.*5092del	ENSP00000497658.1:n.*5092del
ENST00000649781.2:c.*935del	ENSP00000497203.1:n.*935del
ENST00000685018.2:c.*1591del	ENSP00000510194.2:n.*1591del
ENST00000687278.2:c.*1051+286del	ENSP00000509593.2:n.*1051+286del
ENST00000699585.1:c.*1847del	ENSP00000514456.1:n.*1847del
ENST00000699598.1:c.*454+286del	ENSP00000514467.1:n.*454+286del
ENST00000699599.1:c.*961+286del	ENSP00000514468.1:n.*961+286del
ENST00000699600.1:c.*1059+286del	ENSP00000514469.1:n.*1059+286del
ENST00000699601.1:c.*3753del	ENSP00000514470.1:n.*3753del
ENST00000699602.1:c.*935del	ENSP00000514471.1:n.*935del
ENST00000699604.1:c.*5202del	ENSP00000514472.1:n.*5202del
ENST00000699605.1:c.*935del	ENSP00000514473.1:n.*935del
ENST00000699606.1:n.4889del
ENST00000685018.1:c.2242del	ENSP00000510194.1:n.2242del
ENST00000687278.1:c.2185+286del	ENSP00000509593.1:n.2185+286del
ENST00000689011.1:c.2220del
ENST00000003084.11:c.*935del MANE Select	ENSP00000003084.6:n.*935del
ENST00000647720.1:c.2828del
ENST00000003084.10:c.*935del	ENSP00000003084.6:n.*935del
ENST00000600166.1:c.368+2479del
NM_000492.3:c.*935del , LRG_663t1:c.*935del	NP_000483.3:n.*935del
XM_011515751.1:c.*935del	XP_011514053.1:n.*935del
XM_011515753.1:c.*935del	XP_011514055.1:n.*935del
XM_011515754.1:c.*935del	XP_011514056.1:n.*935del
NM_000492.4:c.*935del MANE Select	NP_000483.3:n.*935del