Canonical Allele Identifier: CA4451299

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2498346
• ClinVar RCV Id: RCV003222555
• dbSNP Id: rs181137679
• ExAC: 7:117243779 A / G
• gnomAD v2: 7-117243779-A-G
• gnomAD v3: 7-117603725-A-G
• gnomAD v4: 7-117603725-A-G
• MyVariant Identifiers: chr7:g.117243779A>G (hg19) ; chr7:g.117603725A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603725A>G , CM000669.2:g.117603725A>G	GRCh38
NC_000007.13:g.117243779A>G , CM000669.1:g.117243779A>G	GRCh37
NC_000007.12:g.117031015A>G	NCBI36
NG_016465.4:g.142942A>G , LRG_663:g.142942A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2851A>G	ENSP00000497673.2:p.Lys951Glu
ENST00000647978.2:c.*2565A>G	ENSP00000497658.1:n.*2565A>G
ENST00000649781.2:c.2668A>G	ENSP00000497203.1:p.Lys890Glu
ENST00000685018.2:c.2851A>G	ENSP00000510194.2:p.Lys951Glu
ENST00000687278.2:c.2851A>G	ENSP00000509593.2:p.Lys951Glu
ENST00000699585.1:c.2851A>G	ENSP00000514456.1:p.Lys951Glu
ENST00000699598.1:c.2851A>G	ENSP00000514467.1:p.Lys951Glu
ENST00000699599.1:c.2851A>G	ENSP00000514468.1:p.Lys951Glu
ENST00000699600.1:c.2851A>G	ENSP00000514469.1:p.Lys951Glu
ENST00000699601.1:c.*1151A>G	ENSP00000514470.1:n.*1151A>G
ENST00000699602.1:c.2851A>G	ENSP00000514471.1:p.Lys951Glu
ENST00000699604.1:c.*2675A>G	ENSP00000514472.1:n.*2675A>G
ENST00000699605.1:c.2425A>G	ENSP00000514473.1:p.Lys809Glu
ENST00000687278.1:c.442A>G	ENSP00000509593.1:p.Lys148Glu
ENST00000003084.11:c.2851A>G MANE Select	ENSP00000003084.6:p.Lys951Glu
ENST00000647720.1:c.501A>G
ENST00000648260.1:c.1633A>G	ENSP00000497957.1:p.Lys545Glu
ENST00000649406.1:c.2668A>G	ENSP00000497965.1:p.Lys890Glu
ENST00000649781.1:c.2668A>G	ENSP00000497203.1:p.Lys890Glu
ENST00000003084.10:c.2851A>G	ENSP00000003084.6:p.Lys951Glu
ENST00000426809.5:c.2761A>G	ENSP00000389119.1:p.Lys921Glu
NM_000492.3:c.2851A>G , LRG_663t1:c.2851A>G	NP_000483.3:p.Lys951Glu
XM_011515751.1:c.2941A>G	XP_011514053.1:p.Lys981Glu
XM_011515752.1:c.2941A>G	XP_011514054.1:p.Lys981Glu
XM_011515753.1:c.2608A>G	XP_011514055.1:p.Lys870Glu
XM_011515754.1:c.2608A>G	XP_011514056.1:p.Lys870Glu
NM_000492.4:c.2851A>G MANE Select	NP_000483.3:p.Lys951Glu