Canonical Allele Identifier: CA326966

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53595
• ClinVar RCV Id: RCV000576989 ; RCV000985686
• dbSNP Id: rs397508458
• MyVariant Identifiers: chr7:g.117246728del (hg19) ; chr7:g.117606674del (hg38)
• PubMed: PMID:7515303

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606674del , CM000669.2:g.117606674del	GRCh38
NC_000007.13:g.117246728del , CM000669.1:g.117246728del	GRCh37
NC_000007.12:g.117033964del	NCBI36
NG_016465.4:g.145891del , LRG_663:g.145891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2909del
ENST00000647978.2:c.*2623del
ENST00000649781.2:c.2726del
ENST00000685018.2:c.2909del
ENST00000687278.2:c.2909del
ENST00000699585.1:c.2909del
ENST00000699598.1:c.2909del
ENST00000699599.1:c.2909del
ENST00000699600.1:c.2909del
ENST00000699601.1:c.*1209del
ENST00000699602.1:c.2909del
ENST00000699604.1:c.*2733del
ENST00000699605.1:c.2483del
ENST00000687278.1:c.500del
ENST00000003084.11:c.2909del
ENST00000647720.1:c.559del
ENST00000648260.1:c.1691del
ENST00000649406.1:c.2726del
ENST00000649781.1:c.2726del
ENST00000003084.10:c.2909del
ENST00000426809.5:c.2819del
NM_000492.3:c.2909del , LRG_663t1:c.2909del
XM_011515751.1:c.2999del
XM_011515752.1:c.2999del
XM_011515753.1:c.2666del
XM_011515754.1:c.2666del
NM_000492.4:c.2909del