Canonical Allele Identifier: CA164948434

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2182436
• ClinVar RCV Id: RCV002610848
• dbSNP Id: rs1000104971
• gnomAD v4: 7-117592650-A-G
• MyVariant Identifiers: chr7:g.117232704A>G (hg19) ; chr7:g.117592650A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592650A>G , CM000669.2:g.117592650A>G	GRCh38
NC_000007.13:g.117232704A>G , CM000669.1:g.117232704A>G	GRCh37
NC_000007.12:g.117019940A>G	NCBI36
NG_016465.4:g.131867A>G , LRG_663:g.131867A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2483A>G	ENSP00000497673.2:p.Asp828Gly
ENST00000647978.2:c.*2197A>G	ENSP00000497658.1:n.*2197A>G
ENST00000649781.2:c.2300A>G	ENSP00000497203.1:p.Asp767Gly
ENST00000685018.2:c.2483A>G	ENSP00000510194.2:p.Asp828Gly
ENST00000687278.2:c.2483A>G	ENSP00000509593.2:p.Asp828Gly
ENST00000699585.1:c.2483A>G	ENSP00000514456.1:p.Asp828Gly
ENST00000699598.1:c.2483A>G	ENSP00000514467.1:p.Asp828Gly
ENST00000699599.1:c.2483A>G	ENSP00000514468.1:p.Asp828Gly
ENST00000699600.1:c.2483A>G	ENSP00000514469.1:p.Asp828Gly
ENST00000699601.1:c.*783A>G	ENSP00000514470.1:n.*783A>G
ENST00000699602.1:c.2483A>G	ENSP00000514471.1:p.Asp828Gly
ENST00000699604.1:c.*2307A>G	ENSP00000514472.1:n.*2307A>G
ENST00000699605.1:c.2057A>G	ENSP00000514473.1:p.Asp686Gly
ENST00000687278.1:c.74A>G	ENSP00000509593.1:p.Asp25Gly
ENST00000003084.11:c.2483A>G MANE Select	ENSP00000003084.6:p.Asp828Gly
ENST00000647720.1:c.133A>G
ENST00000647978.1:c.*2197A>G	ENSP00000497658.1:n.*2197A>G
ENST00000648260.1:c.1402-10176A>G	ENSP00000497957.1:n.1402-10176A>G
ENST00000649406.1:c.2300A>G	ENSP00000497965.1:p.Asp767Gly
ENST00000649781.1:c.2300A>G	ENSP00000497203.1:p.Asp767Gly
ENST00000003084.10:c.2483A>G	ENSP00000003084.6:p.Asp828Gly
ENST00000426809.5:c.2393A>G	ENSP00000389119.1:p.Asp798Gly
NM_000492.3:c.2483A>G , LRG_663t1:c.2483A>G	NP_000483.3:p.Asp828Gly
XM_011515751.1:c.2573A>G	XP_011514053.1:p.Asp858Gly
XM_011515752.1:c.2573A>G	XP_011514054.1:p.Asp858Gly
XM_011515753.1:c.2240A>G	XP_011514055.1:p.Asp747Gly
XM_011515754.1:c.2240A>G	XP_011514056.1:p.Asp747Gly
NM_000492.4:c.2483A>G MANE Select	NP_000483.3:p.Asp828Gly