Canonical Allele Identifier: CA247542

Gene: CFTR

Linked Data

• ClinVar Variation Id: 198737
• ClinVar RCV Id: RCV000180170
• dbSNP Id: rs797044788
• MyVariant Identifiers: chr7:g.117180350_117180356delinsA (hg19) ; chr7:g.117540296_117540302delinsA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540296_117540302delinsA , CM000669.2:g.117540296_117540302delinsA	GRCh38
NC_000007.13:g.117180350_117180356delinsA , CM000669.1:g.117180350_117180356delinsA	GRCh37
NC_000007.12:g.116967586_116967592delinsA	NCBI36
NG_016465.4:g.79513_79519delinsA , LRG_663:g.79513_79519delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1066_1072delinsA	ENSP00000497673.2:p.Trp356_Val358delinsIle
ENST00000647978.2:c.*963_*969delinsA	ENSP00000497658.1:n.*963_*969delinsA
ENST00000649781.2:c.1066_1072delinsA	ENSP00000497203.1:p.Trp356_Val358delinsIle
ENST00000685018.2:c.1066_1072delinsA	ENSP00000510194.2:p.Trp356_Val358delinsIle
ENST00000687278.2:c.1066_1072delinsA	ENSP00000509593.2:p.Trp356_Val358delinsIle
ENST00000699585.1:c.1066_1072delinsA	ENSP00000514456.1:p.Trp356_Val358delinsIle
ENST00000699596.1:c.1066_1072delinsA	ENSP00000514465.1:p.Trp356_Val358delinsIle
ENST00000699597.1:c.1066_1072delinsA	ENSP00000514466.1:p.Trp356_Val358delinsIle
ENST00000699598.1:c.1066_1072delinsA	ENSP00000514467.1:p.Trp356_Val358delinsIle
ENST00000699599.1:c.1066_1072delinsA	ENSP00000514468.1:p.Trp356_Val358delinsIle
ENST00000699600.1:c.1066_1072delinsA	ENSP00000514469.1:p.Trp356_Val358delinsIle
ENST00000699601.1:c.1066_1072delinsA	ENSP00000514470.1:p.Trp356_Val358delinsIle
ENST00000699602.1:c.1066_1072delinsA	ENSP00000514471.1:p.Trp356_Val358delinsIle
ENST00000699604.1:c.*890_*896delinsA	ENSP00000514472.1:n.*890_*896delinsA
ENST00000699605.1:c.823_829delinsA	ENSP00000514473.1:p.Trp275_Val277delinsIle
ENST00000003084.11:c.1066_1072delinsA MANE Select	ENSP00000003084.6:p.Trp356_Val358delinsIle
ENST00000647978.1:c.*963_*969delinsA	ENSP00000497658.1:n.*963_*969delinsA
ENST00000648260.1:c.1066_1072delinsA	ENSP00000497957.1:p.Trp356_Val358delinsIle
ENST00000649406.1:c.1066_1072delinsA	ENSP00000497965.1:p.Trp356_Val358delinsIle
ENST00000649781.1:c.1066_1072delinsA	ENSP00000497203.1:p.Trp356_Val358delinsIle
ENST00000673785.1:c.823_829delinsA	ENSP00000501235.1:p.Trp275_Val277delinsIle
ENST00000003084.10:c.1066_1072delinsA	ENSP00000003084.6:p.Trp356_Val358delinsIle
ENST00000426809.5:c.976_982delinsA	ENSP00000389119.1:p.Trp326_Val328delinsIle
NM_000492.3:c.1066_1072delinsA , LRG_663t1:c.1066_1072delinsA	NP_000483.3:p.Trp356_Val358delinsIle
XM_011515751.1:c.1156_1162delinsA	XP_011514053.1:p.Trp386_Val388delinsIle
XM_011515752.1:c.1156_1162delinsA	XP_011514054.1:p.Trp386_Val388delinsIle
XM_011515753.1:c.823_829delinsA	XP_011514055.1:p.Trp275_Val277delinsIle
XM_011515754.1:c.823_829delinsA	XP_011514056.1:p.Trp275_Val277delinsIle
NM_000492.4:c.1066_1072delinsA MANE Select	NP_000483.3:p.Trp356_Val358delinsIle