Canonical Allele Identifier: CA325807

Gene: CFTR

Linked Data

• ClinVar Variation Id: 51033
• ClinVar RCV Id: RCV000043702
• MyVariant Identifiers: chr7:g.117249596_117252110del (hg19) ; chr7:g.117609542_117612056del (hg38)
• PubMed: PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117609542_117612056del , CM000669.2:g.117609542_117612056del	GRCh38
NC_000007.13:g.117249596_117252110del , CM000669.1:g.117249596_117252110del	GRCh37
NC_000007.12:g.117036832_117039346del	NCBI36
NG_016465.4:g.148759_151273del , LRG_663:g.148759_151273del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2989-977_3367+248del
ENST00000647978.2:c.*2703-977_*3081+248del
ENST00000649781.2:c.2806-977_3184+248del
ENST00000685018.2:c.2989-977_3367+248del
ENST00000687278.2:c.2989-977_3367+248del
ENST00000699585.1:c.2989-977_3367+248del
ENST00000699598.1:c.2989-977_3367+248del
ENST00000699599.1:c.2989-977_3367+248del
ENST00000699600.1:c.2989-977_3367+248del
ENST00000699601.1:c.*1289-977_*1667+248del
ENST00000699602.1:c.2989-977_3367+248del
ENST00000699604.1:c.*2813-977_*3191+248del
ENST00000699605.1:c.2563-977_2941+248del
ENST00000687278.1:c.580-977_958+248del
ENST00000003084.11:c.2989-977_3367+248del
ENST00000647720.1:c.639-977_1017+248del
ENST00000648260.1:c.1771-977_2149+248del
ENST00000649406.1:c.2806-977_3184+248del
ENST00000649781.1:c.2806-977_3184+248del
ENST00000003084.10:c.2989-977_3367+248del
ENST00000426809.5:c.2899-977_3277+248del
NM_000492.3:c.2989-977_3367+248del , LRG_663t1:c.2989-977_3367+248del
XM_011515751.1:c.3079-977_3457+248del
XM_011515752.1:c.3079-977_3457+248del
XM_011515753.1:c.2746-977_3124+248del
XM_011515754.1:c.2746-977_3124+248del
NM_000492.4:c.2989-977_3367+248del