Canonical Allele Identifier: CA264802

Gene: CFTR

Linked Data

• ClinVar Variation Id: 66104
• ClinVar RCV Id: RCV000056389
• MyVariant Identifiers: chr7:g.117304664_117306195del (hg19) ; chr7:g.117664610_117666141del (hg38)
• PubMed: PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664610_117666141del , CM000669.2:g.117664610_117666141del	GRCh38
NC_000007.13:g.117304664_117306195del , CM000669.1:g.117304664_117306195del	GRCh37
NC_000007.12:g.117091900_117093431del	NCBI36
NG_016465.4:g.203827_205358del , LRG_663:g.203827_205358del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*173-78_*451+577del
ENST00000647978.2:c.*3678-78_*3956+577del
ENST00000649781.2:c.3781-78_4059+577del
ENST00000685018.2:c.*177-78_*455+577del
ENST00000687278.2:c.*617-78_*895+577del
ENST00000699585.1:c.*173-78_*452-507del
ENST00000699598.1:c.3964-78_4242+577del
ENST00000699599.1:c.*177-78_*455+577del
ENST00000699600.1:c.*625-78_*903+577del
ENST00000699601.1:c.*2339-78_*2617+577del
ENST00000699602.1:c.3958-78_4236+577del
ENST00000699604.1:c.*3788-78_*4066+577del
ENST00000699605.1:c.3538-78_3816+577del
ENST00000699606.1:n.2132-78_2987del
ENST00000685018.1:c.828-78_1106+577del
ENST00000687278.1:c.1751-78_2029+577del
ENST00000689011.1:c.546-78_825-507del
ENST00000003084.11:c.3964-78_4242+577del
ENST00000647720.1:c.1414-78_1692+577del
ENST00000649781.1:c.3781-78_4059+577del
ENST00000003084.10:c.3964-78_4242+577del
ENST00000426809.5:c.3874-78_4152+577del
ENST00000600166.1:c.90-78_368+577del
NM_000492.3:c.3964-78_4242+577del , LRG_663t1:c.3964-78_4242+577del
XM_011515751.1:c.4054-78_4332+577del
XM_011515752.1:c.4054-78_4333-507del
XM_011515753.1:c.3721-78_3999+577del
XM_011515754.1:c.3721-78_3999+577del
NM_000492.4:c.3964-78_4242+577del