Canonical Allele Identifier: CA832122216

Gene: CFTR

Linked Data

• dbSNP Id: rs1298293857
• gnomAD v3: 7-117665731-TTGATC-T
• gnomAD v4: 7-117665731-TTGATC-T
• MyVariant Identifiers: chr7:g.117305786_117305790del (hg19) ; chr7:g.117665732_117665736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665735_117665739del , CM000669.2:g.117665735_117665739del	GRCh38
NC_000007.13:g.117305789_117305793del , CM000669.1:g.117305789_117305793del	GRCh37
NC_000007.12:g.117093025_117093029del	NCBI36
NG_016465.4:g.204952_204956del , LRG_663:g.204952_204956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*451+171_*451+175del	ENSP00000497673.2:n.*451+171_*451+175del
ENST00000647978.2:c.*3956+171_*3956+175del	ENSP00000497658.1:n.*3956+171_*3956+175del
ENST00000649781.2:c.4059+171_4059+175del	ENSP00000497203.1:n.4059+171_4059+175del
ENST00000685018.2:c.*455+171_*455+175del	ENSP00000510194.2:n.*455+171_*455+175del
ENST00000687278.2:c.*895+171_*895+175del	ENSP00000509593.2:n.*895+171_*895+175del
ENST00000699585.1:c.*451+171_*451+175del	ENSP00000514456.1:n.*451+171_*451+175del
ENST00000699598.1:c.4242+171_4242+175del	ENSP00000514467.1:n.4242+171_4242+175del
ENST00000699599.1:c.*455+171_*455+175del	ENSP00000514468.1:n.*455+171_*455+175del
ENST00000699600.1:c.*903+171_*903+175del	ENSP00000514469.1:n.*903+171_*903+175del
ENST00000699601.1:c.*2617+171_*2617+175del	ENSP00000514470.1:n.*2617+171_*2617+175del
ENST00000699602.1:c.4236+171_4236+175del	ENSP00000514471.1:n.4236+171_4236+175del
ENST00000699604.1:c.*4066+171_*4066+175del	ENSP00000514472.1:n.*4066+171_*4066+175del
ENST00000699605.1:c.3816+171_3816+175del	ENSP00000514473.1:n.3816+171_3816+175del
ENST00000699606.1:n.2581_2585del
ENST00000685018.1:c.1106+171_1106+175del	ENSP00000510194.1:n.1106+171_1106+175del
ENST00000687278.1:c.2029+171_2029+175del	ENSP00000509593.1:n.2029+171_2029+175del
ENST00000689011.1:c.824+171_824+175del
ENST00000003084.11:c.4242+171_4242+175del MANE Select	ENSP00000003084.6:n.4242+171_4242+175del
ENST00000647720.1:c.1692+171_1692+175del
ENST00000649781.1:c.4059+171_4059+175del	ENSP00000497203.1:n.4059+171_4059+175del
ENST00000003084.10:c.4242+171_4242+175del	ENSP00000003084.6:n.4242+171_4242+175del
ENST00000426809.5:c.4152+171_4152+175del	ENSP00000389119.1:n.4152+171_4152+175del
ENST00000600166.1:c.368+171_368+175del
NM_000492.3:c.4242+171_4242+175del , LRG_663t1:c.4242+171_4242+175del	NP_000483.3:n.4242+171_4242+175del
XM_011515751.1:c.4332+171_4332+175del	XP_011514053.1:n.4332+171_4332+175del
XM_011515752.1:c.4332+171_4332+175del	XP_011514054.1:n.4332+171_4332+175del
XM_011515753.1:c.3999+171_3999+175del	XP_011514055.1:n.3999+171_3999+175del
XM_011515754.1:c.3999+171_3999+175del	XP_011514056.1:n.3999+171_3999+175del
NM_000492.4:c.4242+171_4242+175del MANE Select	NP_000483.3:n.4242+171_4242+175del