Canonical Allele Identifier: CA221037

Gene: CFTR

Linked Data

• ClinVar Variation Id: 48704
• ClinVar RCV Id: RCV003473298
• dbSNP Id: rs121908768
• ExAC: 7:117180210 CCTT / C
• gnomAD v2: 7-117180210-CCTT-C
• gnomAD v3: 7-117540156-CCTT-C
• gnomAD v4: 7-117540156-CCTT-C
• MyVariant Identifiers: chr7:g.117180219_117180221del (hg19) ; chr7:g.117180211_117180213del (hg19) ; chr7:g.117180219_117180221delTCT (hg19) ; chr7:g.117540165_117540167del (hg38) ; chr7:g.117540158_117540160del (hg38) ; chr7:g.117540157_117540159del (hg38)
• PubMed: PMID:7509232 ; PMID:9443874 ; PMID:11388756 ; PMID:12007216 ; PMID:12394352 ; PMID:15371903 ; PMID:15858154 ; PMID:22311127 ; PMID:23891399 ; PMID:26574590

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540165_117540167del , CM000669.2:g.117540165_117540167del	GRCh38
NC_000007.13:g.117180219_117180221del , CM000669.1:g.117180219_117180221del	GRCh37
NC_000007.12:g.116967455_116967457del	NCBI36
NG_016465.4:g.79382_79384del , LRG_663:g.79382_79384del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.935_937del	ENSP00000497673.2:p.Phe312del
ENST00000647978.2:c.*832_*834del	ENSP00000497658.1:n.*832_*834del
ENST00000649781.2:c.935_937del	ENSP00000497203.1:p.Phe312del
ENST00000685018.2:c.935_937del	ENSP00000510194.2:p.Phe312del
ENST00000687278.2:c.935_937del	ENSP00000509593.2:p.Phe312del
ENST00000699585.1:c.935_937del	ENSP00000514456.1:p.Phe312del
ENST00000699596.1:c.935_937del	ENSP00000514465.1:p.Phe312del
ENST00000699597.1:c.935_937del	ENSP00000514466.1:p.Phe312del
ENST00000699598.1:c.935_937del	ENSP00000514467.1:p.Phe312del
ENST00000699599.1:c.935_937del	ENSP00000514468.1:p.Phe312del
ENST00000699600.1:c.935_937del	ENSP00000514469.1:p.Phe312del
ENST00000699601.1:c.935_937del	ENSP00000514470.1:p.Phe312del
ENST00000699602.1:c.935_937del	ENSP00000514471.1:p.Phe312del
ENST00000699604.1:c.*759_*761del	ENSP00000514472.1:n.*759_*761del
ENST00000699605.1:c.692_694del	ENSP00000514473.1:p.Phe231del
ENST00000003084.11:c.935_937del MANE Select	ENSP00000003084.6:p.Phe312del
ENST00000647978.1:c.*832_*834del	ENSP00000497658.1:n.*832_*834del
ENST00000648260.1:c.935_937del	ENSP00000497957.1:p.Phe312del
ENST00000649406.1:c.935_937del	ENSP00000497965.1:p.Phe312del
ENST00000649781.1:c.935_937del	ENSP00000497203.1:p.Phe312del
ENST00000673785.1:c.692_694del	ENSP00000501235.1:p.Phe231del
ENST00000003084.10:c.935_937del	ENSP00000003084.6:p.Phe312del
ENST00000426809.5:c.845_847del	ENSP00000389119.1:p.Phe282del
NM_000492.3:c.935_937del , LRG_663t1:c.935_937del	NP_000483.3:p.Phe312del
XM_011515751.1:c.1025_1027del	XP_011514053.1:p.Phe342del
XM_011515752.1:c.1025_1027del	XP_011514054.1:p.Phe342del
XM_011515753.1:c.692_694del	XP_011514055.1:p.Phe231del
XM_011515754.1:c.692_694del	XP_011514056.1:p.Phe231del
NM_000492.4:c.935_937del MANE Select	NP_000483.3:p.Phe312del