Canonical Allele Identifier: CA832122211

Gene: CFTR

Linked Data

• dbSNP Id: rs1320968978
• gnomAD v4: 7-117665577-AACTTT-A
• MyVariant Identifiers: chr7:g.117305632_117305636del (hg19) ; chr7:g.117665578_117665582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665582_117665586del , CM000669.2:g.117665582_117665586del	GRCh38
NC_000007.13:g.117305636_117305640del , CM000669.1:g.117305636_117305640del	GRCh37
NC_000007.12:g.117092872_117092876del	NCBI36
NG_016465.4:g.204799_204803del , LRG_663:g.204799_204803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*451+18_*451+22del	ENSP00000497673.2:n.*451+18_*451+22del
ENST00000647978.2:c.*3956+18_*3956+22del	ENSP00000497658.1:n.*3956+18_*3956+22del
ENST00000649781.2:c.4059+18_4059+22del	ENSP00000497203.1:n.4059+18_4059+22del
ENST00000685018.2:c.*455+18_*455+22del	ENSP00000510194.2:n.*455+18_*455+22del
ENST00000687278.2:c.*895+18_*895+22del	ENSP00000509593.2:n.*895+18_*895+22del
ENST00000699585.1:c.*451+18_*451+22del	ENSP00000514456.1:n.*451+18_*451+22del
ENST00000699598.1:c.4242+18_4242+22del	ENSP00000514467.1:n.4242+18_4242+22del
ENST00000699599.1:c.*455+18_*455+22del	ENSP00000514468.1:n.*455+18_*455+22del
ENST00000699600.1:c.*903+18_*903+22del	ENSP00000514469.1:n.*903+18_*903+22del
ENST00000699601.1:c.*2617+18_*2617+22del	ENSP00000514470.1:n.*2617+18_*2617+22del
ENST00000699602.1:c.4236+18_4236+22del	ENSP00000514471.1:n.4236+18_4236+22del
ENST00000699604.1:c.*4066+18_*4066+22del	ENSP00000514472.1:n.*4066+18_*4066+22del
ENST00000699605.1:c.3816+18_3816+22del	ENSP00000514473.1:n.3816+18_3816+22del
ENST00000699606.1:n.2428_2432del
ENST00000685018.1:c.1106+18_1106+22del	ENSP00000510194.1:n.1106+18_1106+22del
ENST00000687278.1:c.2029+18_2029+22del	ENSP00000509593.1:n.2029+18_2029+22del
ENST00000689011.1:c.824+18_824+22del
ENST00000003084.11:c.4242+18_4242+22del MANE Select	ENSP00000003084.6:n.4242+18_4242+22del
ENST00000647720.1:c.1692+18_1692+22del
ENST00000649781.1:c.4059+18_4059+22del	ENSP00000497203.1:n.4059+18_4059+22del
ENST00000003084.10:c.4242+18_4242+22del	ENSP00000003084.6:n.4242+18_4242+22del
ENST00000426809.5:c.4152+18_4152+22del	ENSP00000389119.1:n.4152+18_4152+22del
ENST00000600166.1:c.368+18_368+22del
NM_000492.3:c.4242+18_4242+22del , LRG_663t1:c.4242+18_4242+22del	NP_000483.3:n.4242+18_4242+22del
XM_011515751.1:c.4332+18_4332+22del	XP_011514053.1:n.4332+18_4332+22del
XM_011515752.1:c.4332+18_4332+22del	XP_011514054.1:n.4332+18_4332+22del
XM_011515753.1:c.3999+18_3999+22del	XP_011514055.1:n.3999+18_3999+22del
XM_011515754.1:c.3999+18_3999+22del	XP_011514056.1:n.3999+18_3999+22del
NM_000492.4:c.4242+18_4242+22del MANE Select	NP_000483.3:n.4242+18_4242+22del