Canonical Allele Identifier: CA832111332

Gene: CFTR

Linked Data

• dbSNP Id: rs1390585407
• gnomAD v4: 7-117534184-CATA-C
• MyVariant Identifiers: chr7:g.117174239_117174241del (hg19) ; chr7:g.117534185_117534187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117534189_117534191del , CM000669.2:g.117534189_117534191del	GRCh38
NC_000007.13:g.117174243_117174245del , CM000669.1:g.117174243_117174245del	GRCh37
NC_000007.12:g.116961479_116961481del	NCBI36
NG_016465.4:g.73406_73408del , LRG_663:g.73406_73408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.490-87_490-85del	ENSP00000497673.2:n.490-87_490-85del
ENST00000647978.2:c.*387-87_*387-85del	ENSP00000497658.1:n.*387-87_*387-85del
ENST00000649781.2:c.490-87_490-85del	ENSP00000497203.1:n.490-87_490-85del
ENST00000685018.2:c.490-87_490-85del	ENSP00000510194.2:n.490-87_490-85del
ENST00000687278.2:c.490-87_490-85del	ENSP00000509593.2:n.490-87_490-85del
ENST00000699585.1:c.490-87_490-85del	ENSP00000514456.1:n.490-87_490-85del
ENST00000699596.1:c.490-87_490-85del	ENSP00000514465.1:n.490-87_490-85del
ENST00000699597.1:c.490-87_490-85del	ENSP00000514466.1:n.490-87_490-85del
ENST00000699598.1:c.490-87_490-85del	ENSP00000514467.1:n.490-87_490-85del
ENST00000699599.1:c.490-87_490-85del	ENSP00000514468.1:n.490-87_490-85del
ENST00000699600.1:c.490-87_490-85del	ENSP00000514469.1:n.490-87_490-85del
ENST00000699601.1:c.490-87_490-85del	ENSP00000514470.1:n.490-87_490-85del
ENST00000699602.1:c.490-87_490-85del	ENSP00000514471.1:n.490-87_490-85del
ENST00000699604.1:c.*314-87_*314-85del	ENSP00000514472.1:n.*314-87_*314-85del
ENST00000699605.1:c.247-87_247-85del	ENSP00000514473.1:n.247-87_247-85del
ENST00000003084.11:c.490-87_490-85del MANE Select	ENSP00000003084.6:n.490-87_490-85del
ENST00000647978.1:c.*387-87_*387-85del	ENSP00000497658.1:n.*387-87_*387-85del
ENST00000648260.1:c.490-87_490-85del	ENSP00000497957.1:n.490-87_490-85del
ENST00000649406.1:c.490-87_490-85del	ENSP00000497965.1:n.490-87_490-85del
ENST00000649781.1:c.490-87_490-85del	ENSP00000497203.1:n.490-87_490-85del
ENST00000673785.1:c.247-87_247-85del	ENSP00000501235.1:n.247-87_247-85del
ENST00000003084.10:c.490-87_490-85del	ENSP00000003084.6:n.490-87_490-85del
ENST00000426809.5:c.490-1059_490-1057del	ENSP00000389119.1:n.490-1059_490-1057del
NM_000492.3:c.490-87_490-85del , LRG_663t1:c.490-87_490-85del	NP_000483.3:n.490-87_490-85del
XM_011515751.1:c.580-87_580-85del	XP_011514053.1:n.580-87_580-85del
XM_011515752.1:c.580-87_580-85del	XP_011514054.1:n.580-87_580-85del
XM_011515753.1:c.247-87_247-85del	XP_011514055.1:n.247-87_247-85del
XM_011515754.1:c.247-87_247-85del	XP_011514056.1:n.247-87_247-85del
NM_000492.4:c.490-87_490-85del MANE Select	NP_000483.3:n.490-87_490-85del