Canonical Allele Identifier: CA2579000295

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1412635
• ClinVar RCV Id: RCV001919149 ; RCV003323951
• dbSNP Id: rs1554392764
• gnomAD v4: 7-117614610-TAGGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614621_117614626del , CM000669.2:g.117614621_117614626del	GRCh38
NC_000007.13:g.117254675_117254680del , CM000669.1:g.117254675_117254680del	GRCh37
NC_000007.12:g.117041911_117041916del	NCBI36
NG_016465.4:g.153838_153843del , LRG_663:g.153838_153843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3376_3381del
ENST00000647978.2:c.*3090_*3095del
ENST00000649781.2:c.3193_3198del
ENST00000685018.2:c.3376_3381del
ENST00000687278.2:c.3376_3381del
ENST00000699585.1:c.3376_3381del
ENST00000699598.1:c.3376_3381del
ENST00000699599.1:c.3376_3381del
ENST00000699600.1:c.3376_3381del
ENST00000699601.1:c.*1751_*1756del	ENSP00000514470.1:n.*1751_*1756del
ENST00000699602.1:c.3370_3375del
ENST00000699604.1:c.*3200_*3205del
ENST00000699605.1:c.2950_2955del
ENST00000685018.1:c.124_129del
ENST00000687278.1:c.967_972del
ENST00000003084.11:c.3376_3381del
ENST00000647720.1:c.1026_1031del
ENST00000648260.1:c.2158_2163del
ENST00000649406.1:c.3193_3198del
ENST00000649781.1:c.3193_3198del
ENST00000003084.10:c.3376_3381del
ENST00000426809.5:c.3286_3291del
ENST00000468795.1:c.201_206del
NM_000492.3:c.3376_3381del , LRG_663t1:c.3376_3381del
XM_011515751.1:c.3466_3471del
XM_011515752.1:c.3466_3471del
XM_011515753.1:c.3133_3138del
XM_011515754.1:c.3133_3138del
NM_000492.4:c.3376_3381del