Canonical Allele Identifier: CA645509185

Gene: CFTR

Linked Data

• ClinVar Variation Id: 439070
• ClinVar RCV Id: RCV000506422
• dbSNP Id: rs1554391489
• gnomAD v4: 7-117606745-TTCATCCAGG-T
• MyVariant Identifiers: chr7:g.117246801_117246809del (hg19) ; chr7:g.117606747_117606755del (hg38)
• PubMed: PMID:26708955

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606747_117606755del , CM000669.2:g.117606747_117606755del	GRCh38
NC_000007.13:g.117246801_117246809del , CM000669.1:g.117246801_117246809del	GRCh37
NC_000007.12:g.117034037_117034045del	NCBI36
NG_016465.4:g.145964_145972del , LRG_663:g.145964_145972del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2982_2988+2del
ENST00000647978.2:c.*2696_*2702+2del
ENST00000649781.2:c.2799_2805+2del
ENST00000685018.2:c.2982_2988+2del
ENST00000687278.2:c.2982_2988+2del
ENST00000699585.1:c.2982_2988+2del
ENST00000699598.1:c.2982_2988+2del
ENST00000699599.1:c.2982_2988+2del
ENST00000699600.1:c.2982_2988+2del
ENST00000699601.1:c.*1282_*1288+2del
ENST00000699602.1:c.2982_2988+2del
ENST00000699604.1:c.*2806_*2812+2del
ENST00000699605.1:c.2556_2562+2del
ENST00000687278.1:c.573_579+2del
ENST00000003084.11:c.2982_2988+2del
ENST00000647720.1:c.632_638+2del
ENST00000648260.1:c.1764_1770+2del
ENST00000649406.1:c.2799_2805+2del
ENST00000649781.1:c.2799_2805+2del
ENST00000003084.10:c.2982_2988+2del
ENST00000426809.5:c.2892_2898+2del
NM_000492.3:c.2982_2988+2del , LRG_663t1:c.2982_2988+2del
XM_011515751.1:c.3072_3078+2del
XM_011515752.1:c.3072_3078+2del
XM_011515753.1:c.2739_2745+2del
XM_011515754.1:c.2739_2745+2del
NM_000492.4:c.2982_2988+2del