Canonical Allele Identifier: CA577680856

Gene: CFTR

Linked Data

• dbSNP Id: rs1345477998
• gnomAD v2: 7-117251810-G-GCAAATAACATAAACACAAAATGTA
• MyVariant Identifiers: chr7:g.117251810_117251811insCAAATAACATAAACACAAAATGTA (hg19) ; chr7:g.117611756_117611757insCAAATAACATAAACACAAAATGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611756_117611757insCAAATAACATAAACACAAAATGTA , CM000669.2:g.117611756_117611757insCAAATAACATAAACACAAAATGTA	GRCh38
NC_000007.13:g.117251810_117251811insCAAATAACATAAACACAAAATGTA , CM000669.1:g.117251810_117251811insCAAATAACATAAACACAAAATGTA	GRCh37
NC_000007.12:g.117039046_117039047insCAAATAACATAAACACAAAATGTA	NCBI36
NG_016465.4:g.150973_150974insCAAATAACATAAACACAAAATGTA , LRG_663:g.150973_150974insCAAATAACATAAACACAAAATGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3315_3316insCAAATAACATAAACACAAAATGTA
ENST00000647978.2:c.*3029_*3030insCAAATAACATAAACACAAAATGTA	ENSP00000497658.1:n.*3029_*3030insCAAATAA...
ENST00000649781.2:c.3132_3133insCAAATAACATAAACACAAAATGTA
ENST00000685018.2:c.3315_3316insCAAATAACATAAACACAAAATGTA
ENST00000687278.2:c.3315_3316insCAAATAACATAAACACAAAATGTA
ENST00000699585.1:c.3315_3316insCAAATAACATAAACACAAAATGTA
ENST00000699598.1:c.3315_3316insCAAATAACATAAACACAAAATGTA
ENST00000699599.1:c.3315_3316insCAAATAACATAAACACAAAATGTA
ENST00000699600.1:c.3315_3316insCAAATAACATAAACACAAAATGTA
ENST00000699601.1:c.*1615_*1616insCAAATAACATAAACACAAAATGTA	ENSP00000514470.1:n.*1615_*1616insCAAATAA...
ENST00000699602.1:c.3315_3316insCAAATAACATAAACACAAAATGTA
ENST00000699604.1:c.*3139_*3140insCAAATAACATAAACACAAAATGTA	ENSP00000514472.1:n.*3139_*3140insCAAATAA...
ENST00000699605.1:c.2889_2890insCAAATAACATAAACACAAAATGTA
ENST00000685018.1:c.63_64insCAAATAACATAAACACAAAATGTA
ENST00000687278.1:c.906_907insCAAATAACATAAACACAAAATGTA
ENST00000003084.11:c.3315_3316insCAAATAACATAAACACAAAATGTA
ENST00000647720.1:c.965_966insCAAATAACATAAACACAAAATGTA
ENST00000648260.1:c.2097_2098insCAAATAACATAAACACAAAATGTA
ENST00000649406.1:c.3132_3133insCAAATAACATAAACACAAAATGTA
ENST00000649781.1:c.3132_3133insCAAATAACATAAACACAAAATGTA
ENST00000003084.10:c.3315_3316insCAAATAACATAAACACAAAATGTA
ENST00000426809.5:c.3225_3226insCAAATAACATAAACACAAAATGTA
ENST00000468795.1:c.140_141insCAAATAACATAAACACAAAATGTA
NM_000492.3:c.3315_3316insCAAATAACATAAACACAAAATGTA , LRG_663t1:c.3315_3316insCAAATAACATAAACACAAAATGTA
XM_011515751.1:c.3405_3406insCAAATAACATAAACACAAAATGTA
XM_011515752.1:c.3405_3406insCAAATAACATAAACACAAAATGTA
XM_011515753.1:c.3072_3073insCAAATAACATAAACACAAAATGTA
XM_011515754.1:c.3072_3073insCAAATAACATAAACACAAAATGTA
NM_000492.4:c.3315_3316insCAAATAACATAAACACAAAATGTA