Canonical Allele Identifier: CA327563

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53998
• ClinVar RCV Id: RCV000785759
• dbSNP Id: rs1562882675
• MyVariant Identifiers: chr7:g.117144307_117144417del (hg19) ; chr7:g.117504253_117504363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117504253_117504363del , CM000669.2:g.117504253_117504363del	GRCh38
NC_000007.13:g.117144307_117144417del , CM000669.1:g.117144307_117144417del	GRCh37
NC_000007.12:g.116931543_116931653del	NCBI36
NG_016465.4:g.43470_43580del , LRG_663:g.43470_43580del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.54_164del
ENST00000647978.2:c.54_164del
ENST00000649781.2:c.54_164del
ENST00000649850.2:c.54_164del
ENST00000685018.2:c.54_164del
ENST00000687278.2:c.54_164del
ENST00000693465.2:n.139_249del
ENST00000699585.1:c.54_164del
ENST00000699596.1:c.54_164del
ENST00000699597.1:c.54_164del
ENST00000699598.1:c.54_164del
ENST00000699599.1:c.54_164del
ENST00000699600.1:c.54_164del
ENST00000699601.1:c.54_164del
ENST00000699602.1:c.54_164del
ENST00000699604.1:c.54_164del
ENST00000699605.1:c.-190_-80del
ENST00000446805.2:c.-190_-80del
ENST00000693465.1:n.124_234del
ENST00000003084.11:c.54_164del
ENST00000647639.1:n.138_248del
ENST00000647978.1:c.54_164del
ENST00000648260.1:c.54_164del
ENST00000649406.1:c.54_164del
ENST00000649781.1:c.54_164del
ENST00000649850.1:n.137_247del
ENST00000673785.1:c.-190_-80del
ENST00000003084.10:c.54_164del
ENST00000426809.5:c.54_164del
ENST00000446805.1:c.-190_-80del
NM_000492.3:c.54_164del , LRG_663t1:c.54_164del
XM_011515751.1:c.144_254del
XM_011515752.1:c.144_254del
XM_011515753.1:c.-190_-80del
XM_011515754.1:c.-264_-154del
NM_000492.4:c.54_164del