Canonical Allele Identifier: CA164952455

Gene: CFTR

Linked Data

• dbSNP Id: rs752396903
• gnomAD v3: 7-117652777-TAAGGGAAAAATAAA-T
• gnomAD v4: 7-117652777-TAAGGGAAAAATAAA-T
• MyVariant Identifiers: chr7:g.117292832_117292845del (hg19) ; chr7:g.117652778_117652791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652781_117652794del , CM000669.2:g.117652781_117652794del	GRCh38
NC_000007.13:g.117292835_117292848del , CM000669.1:g.117292835_117292848del	GRCh37
NC_000007.12:g.117080071_117080084del	NCBI36
NG_016465.4:g.191998_192011del , LRG_663:g.191998_192011del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*83-61_*83-48del	ENSP00000497673.2:n.*83-61_*83-48del
ENST00000647978.2:c.*3588-61_*3588-48del	ENSP00000497658.1:n.*3588-61_*3588-48del
ENST00000649781.2:c.3691-61_3691-48del	ENSP00000497203.1:n.3691-61_3691-48del
ENST00000685018.2:c.*87-61_*87-48del	ENSP00000510194.2:n.*87-61_*87-48del
ENST00000687278.2:c.*527-61_*527-48del	ENSP00000509593.2:n.*527-61_*527-48del
ENST00000699585.1:c.*83-61_*83-48del	ENSP00000514456.1:n.*83-61_*83-48del
ENST00000699598.1:c.3874-61_3874-48del	ENSP00000514467.1:n.3874-61_3874-48del
ENST00000699599.1:c.*87-61_*87-48del	ENSP00000514468.1:n.*87-61_*87-48del
ENST00000699600.1:c.*535-61_*535-48del	ENSP00000514469.1:n.*535-61_*535-48del
ENST00000699601.1:c.*2249-61_*2249-48del	ENSP00000514470.1:n.*2249-61_*2249-48del
ENST00000699602.1:c.3868-61_3868-48del	ENSP00000514471.1:n.3868-61_3868-48del
ENST00000699604.1:c.*3698-61_*3698-48del	ENSP00000514472.1:n.*3698-61_*3698-48del
ENST00000699605.1:c.3448-61_3448-48del	ENSP00000514473.1:n.3448-61_3448-48del
ENST00000699606.1:n.1981_1994del
ENST00000685018.1:c.738-61_738-48del	ENSP00000510194.1:n.738-61_738-48del
ENST00000687278.1:c.1661-61_1661-48del	ENSP00000509593.1:n.1661-61_1661-48del
ENST00000689011.1:c.456-61_456-48del
ENST00000003084.11:c.3874-61_3874-48del MANE Select	ENSP00000003084.6:n.3874-61_3874-48del
ENST00000647720.1:c.1324-61_1324-48del
ENST00000649781.1:c.3691-61_3691-48del	ENSP00000497203.1:n.3691-61_3691-48del
ENST00000003084.10:c.3874-61_3874-48del	ENSP00000003084.6:n.3874-61_3874-48del
ENST00000426809.5:c.3784-61_3784-48del	ENSP00000389119.1:n.3784-61_3784-48del
NM_000492.3:c.3874-61_3874-48del , LRG_663t1:c.3874-61_3874-48del	NP_000483.3:n.3874-61_3874-48del
XM_011515751.1:c.3964-61_3964-48del	XP_011514053.1:n.3964-61_3964-48del
XM_011515752.1:c.3964-61_3964-48del	XP_011514054.1:n.3964-61_3964-48del
XM_011515753.1:c.3631-61_3631-48del	XP_011514055.1:n.3631-61_3631-48del
XM_011515754.1:c.3631-61_3631-48del	XP_011514056.1:n.3631-61_3631-48del
NM_000492.4:c.3874-61_3874-48del MANE Select	NP_000483.3:n.3874-61_3874-48del